2016 Jagt 4th QTR

The Journal
of the
Association of Genetic Technologists
Volume 42Number 4Fourth Quarter 2016

Brain Tickler
Column Editor: Helen Lawce
Brain Tickler
Submitted by:
Helen Lawce
Peripheral blood was received on an Knight Diagnostic Cytogenetics Laboratory
8-year-old female with submucous cleft Oregon Health & Science University
palate. Portland, Oregon
The answer to this

Brain Tickler appears
on page 192.
The Journal of the Association of Genetic Technologists
Fourth Quarter 2016 Volume 42, Number 4
The official journal

of the AGT
Table of Contents
Brain Tickler. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Inside Front Cover
Column Editors and Review Board . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 176
A Note from the Editor. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 177

Editorial Information
Editor Case Study
Mark Terry, BSc A New Rhesus Macaque Karyotype Based
on Human-rhesus Synteny
Associate Editors
Nichole M. Owen, Helen J. Lawce, and Susan B. Olson. . . . . . . . . . . . . . . . . . . . . . . . . 178
Turid Knutsen, MT(ASCP), CLSp(CG)
Helen Lawce, BSc, CLSp(CG) Teaching Case Study
Heather E. Williams, MS, CG(ASCP)CM Acute Myeloid Leukemia with inv(16)(p13.1q22)
Su Yang, BSc, CLSp(CG)
Juli-Anne Gardner, MD and Katherine Devitt, MD. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 180
Book Review Editor
Helen Lawce, BSc, CLSp(CG) Case Study
Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)
Copyright 2016 by the AGT. All rights Kristie Q. Liu and Carlos A. Tirado. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 181
reserved. Contents are not to be reproduced
or reprinted without permission of the AGT Molecular Diagnostics
Editor. A Brief Reflection
By Michelle Mah & Anna Haasen. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 187
The Journal of the Association of Genetic
Technologists is published four times a year Profiles and Perspectives
and is available to individuals and libraries Claudia Wiersch, B.S.
at a subscription rate of $115 per year. The Interviewed by Hon Fong L. Mark. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 190
subscription rate for members of the AGT
is included in the annual membership dues. Brain Tickler Summary. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 192
Back issues can be purchased for members at
Continuing Education Opportunities
$5 per issue and for non-members at $25 per
issue as long as supplies are available. Test Yourself #4, 2016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 193
AGT Journal Clubs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 196
Material intended for publication or cor-
respondence concerning editorial matters Association Bu siness
should be sent to the editor.
Message from the President. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 203
JAGT Editor Association of Genetic Technologists BOD Contacts. . . . . . . . . . . . . . . . . . . . . . . . . 204
Mark Terry AGT 2017 Call for Abstracts. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 205
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The Journal of the Association of Genetic Technologists 42 (4) 2016
175
The Journal of the Association of Genetic Technologists Staff
Column Editors
Abstract Reviews/Genetics in the News Genetics, Government & Regulation Meeting Notices Special Interests
Jaime Garcia-Heras, MD, PhD Helen Bixenman, MBA, CLSup, CLSp(CG) Jun Gu, MD, PhD, CG(ASCP)CM Turid Knutsen, MT(ASCP), CLSp(CG)
Director of Cytogenetics San Diego Blood Bank University of Texas MD Anderson 17836 Shotley Bridge Place
The Center for Medical Genetics 3636 Gateway Center Avenue, Suite 100 Cancer Center Olney, MD 20832
7400 Fannin, Suite 700 San Diego, CA 92102 School of Health Professions 301-570-4965
Houston, TX 77054 619-400-8254 Cytogenetic Technology Program knutsent@earthlink.net
hbixenman@sandiegobloodbank.org 1515 Holcombe Blvd., Unit 2
713-432-1991
Houston, TX 77030 Test Yourself
713-432-1661 FAX Jennifer Crawford-Alvares
713-563-3094 Sally J. Kochmar, MS, CG(ASCP)CM
jgarcia@geneticstesting.com Cytogenetic Technologist II
jungu@mdanderson.org Magee-Womens Hospital
Section of Hematology/Oncology
Brain Tickler/Book Review Editor Pittsburgh Cytogenetics Lab
The University of Chicago Medicine Molecular Diagnostics
Helen Lawce, BSc, CLSp(CG) 300 Halket St., Room 1233
5841 S. Maryland Ave., Rm. I-304 Michelle Mah, MLT, MB(ASCP)CM
Clinical Cytogenetics Laboratory Chicago, IL Pittsburgh, PA 15213
Advanced Diagnostics Lab
Oregon Health Sciences University jen.crawford34@gmail.com 412-641-4882
Princess Margaret Cancer Centre
3181 SW Sam Jackson Parkway Office: 773-702-9153 skochmar@upmc.edu
University Health Network
MP-350
610 University Ave.
Portland, OR 97201 Letters to the Editor
Toronto, Ontario
503-494-2790 Mark Terry, JAGT Editor
Canada M5G 2M9
503-494-6104 FAX 1264 Keble Lane
416-946-4501 ext.5036
lawceh@ohsu.edu Oxford, MI 48371
michelle.j.mah@gmail.com
586-805-9407 (cell)
248-628-3025 (phone/FAX) Profiles & Perspectives
markterry@charter.net Hon Fong Louie Mark, PhD, FACMG
President
KRAM Corporation
2 Pine Top Road
Barrington, RI 02806
401-246-0487
HonFong_Mark@Brown.edu
Review Board
Linda Ashworth, BSc, CLSp(CG) Sue Fox, BSc, CLSp(CG) Hon Fong Louie Mark, PhD, FACMG Debra Saxe, PhD
(Cytogenetics, Molecular genetics) (Bone marrow cytogenetics, Prenatal (Molecular genetics, Somatic cell (Prenatal diagnosis, Cytogenetics)
diagnosis, Supervisory/Management) genetics, Cancer cytogenetics, Breast
Helen Bixenman, BSc, CLSp(CG), CLSup Jack L. Spurbeck, BSc, CLSp(CG)
cancer, Trisomies, Laboratory practices,
(Prenatal diagnosis) Jaime Garcia-Heras, MD, PhD (Cancer cytogenetics, Molecular
Regulatory practices, FISH)
(Clinical cytogenetics) genetics)
Judith Brown, MS, CLSp(CG), CLSp(MB)
Jennifer L. McGonigle, BA, CLSp(CG)
(Cytogenetics) Robert Gasparini, MS, CLSp(CG) Peggy Stupca, MSc, CLSp(CG)
(Cytogenetics)
(Prenatal diagnosis, Cytogenetics) (Cytogenetics, Prenatal diagnosis,
Kim Bussey, PhD
Karen Dyer Montgomery, PhD, FACMG Breakage syndromes, FISH, Regulations/
(Cancer genetics, Molecular genetics, Barbara K. Goodman, PhD, MSc,
(Cancer cytogenetics, Cytogenetics, QA)
Microdissection/PCR/DNA) CLSp(CG)
Molecular cytogenetics)
(Molecular cytogenetics) Nancy Taylor, BSc, CLSp(CG), MT(ASCP)
Mona Cant, BSc, CLSp(CG)
Stephen R. Moore, PhD, ABMG (Cytogenetics, Cancer cytogenetics)
(Cytogenetics) Michelle M. Hess, MS, CLSp(CG)
(Clinical cytogenetics, radiation biology,
(Cytogenetics, Cancer cytogenetics) Thomas Wan, PhD
Anthony Ciminski, CG(ASCP)CM toxicology; clinical molecular genetics)
(Cytogenetics, Molecular genetics,
Molecular Genetics, Molecular Lynn Hoyt, BSc, CLSp(CG), CLSup
Rodman Morgan, MS, CLSp(CG) Cancer genetics)
Cytogenetics (Classical cytogenetics)
(Cancer cytogenetics)
James Waurin, MSc, CLSp(CG)
Adam Coovadia, CLSpP(CG, MG) Peter C. Hu, PhD, MS, MLS(ASCP), CG, MB
Susan B. Olson, PhD (Prenatal diagnosis, Counseling)
(Traditional, Molecular, Regulatory) (Cytogenetics, Molecular cytogenetics,
(Cancer cytogenetics, Molecular
Education) Sara Wechter, BSc
Philip D. Cotter, PhD, FACMG genetics, Prenatal diagnosis, OB/GYN,
(Cytogenetics, Cancer)
(Prenatal diagnosis, Chromosome Denise M. Juroske, MSFS, MB(ASCP)CM Counseling, Cytogenetics)
rearrangements, Molecular genetics) (Cytogenetics, Molecular, Education) Heather E. Williams, MS, CG(ASCP)CM
Jonathan P. Park, PhD
(Cytogenetics, Molecular Genetics)
Jennifer Costanzo, MS, CLSp(CG) Julia Kawecki, BSc, CLSp(CG) (Cytogenetics, Molecular genetics,
(Cytogenetics, Molecular genetics) (Cytogenetics, Molecular genetics) Cell biology) Su Yang, BSc, CLSP(CG)
(Education, Traditional Cytogenetics)
Janet Cowan, PhD Turid Knutsen, MT(ASCP), CLSp(CG) David Peakman, AIMLT, CLSp(CG)
(Cytogenetics, Cancer genetics, (Cancer cytogenetics, CGH, SKY) (Prenatal diagnosis) Jason A. Yuhas, BS, CG(ASCP)CM
FISH, Solid tumors) (Cytogenetics, Molecular cytogenetics)
Brandon Kubala, BSc, CLSp(CG) Carol Reifsteck, BA
Lezlie Densmore, BSc, CLSp(CG) (Traditional Cytogenetics) (Breakage syndromes, Fanconis James Zabawski, MS, CLSp(CG)
(Cytogenetics, Molecular genetics) anemia, Prenatal diagnosis) (Education, Traditional Cytogenetics)
Anita Kulharya, PhD
Janet Finan, BSc, CLSp(CG) (Molecular genetics, Clinical Gavin P. Robertson, PhD
(Hemic neoplasms, Somatic cell cytogenetics) (Cytogenetics, Molecular genetics,
hybridization) Somatic cell genetics, Tumor suppressor
Helen Lawce, BSc, CLSp(CG) genes, Cancer genes)
Lakshan Fonseka, MS (Prenatal diagnosis, Solid tumors, FISH,
(Cytogenetics, Molecular genetics) Chromosome structure, Evolution) Laurel Sakaluk-Moody, MSc, MLT(CG)
(Cytogenetics, Developmental biology,
Prenatal cytogenetics)
176
A Note from the Editor
The Association of Genetic Technologists
As usual, the AGT faces challenges. There are a number of of Genetic Technologists. The journal began as a few mimeographed
factors, but they include decreasing membership. Part of this pages that was mostly made up of case studies, membership
is likely related to lack of support by employers, although the news, and troubleshooting and technique-related materials. As
membership fee for AGT is fairly nominal. Its also consistent the organization began to increasingly focus on certification,
with wider trends that professional organizations are having with licensure, government-related activities, salary equality, and
dwindling memberships nationally. professional development, the journal grew as well.
Another likely factor is that the organization began 40+ years Because it has always been the most tangible sign of membership,
ago as The Association of Cytogenetic Technologists. Although it has tended to be a reflection of the organization. For a while it
karyotyping is still mostly considered the gold standard for was largely a peer-reviewed technical journal. As such, its always
chromosomal changes and chromosome-related diagnostics, had some difficulties in competing with the bigger journals, such
its clear that the inclusion of a variety of methodsFISH, as Journal of Human Genetics, Human Genetics, American Journal of
microarrays, and next generation sequencing, to name a fewis Human Genetics, Journal of Medical Genetics, Cancer Genetics and
both an adjunct and a replacement for it. Cytogenetics, etc. Which is one of the reasons why, when I took
Does that mean that karyotyping will go away? Well, never over as editor in 2000, I pushed it toward being a mix of peer-
say never, but probably not. But it may become a confirmation review technical journal and trade journal, with a combination of
test when other modalities are inconclusive, or just part of a technical articles and business and continuing education-related
laboratorys arsenal of techniques. materials.
But an outcome of this shift has been that molecular techniques If theres a point to this column, its to get you, as members and
are used for far more than chromosomal studies. This has had a readers, to think about what this organization is for youand to
big impact on the technologists working in the field and how think very hard about what you want it to be. If its a way to go to
laboratories and their institutions split up duties. the annual meeting at a lower price, well, okay, thats fine. If its
What I mean by this is that if the microbiology laboratory, because of continuing education opportunities, thats good. If its
the hematology laboratory, etc., are using the same technology because you think having an organization to lobby government
and tech platforms, from a financial and workflow point of view, agencies, licensure and certification boards on your behalf is
it makes sense to not split them out into separate cytogenetic important, thats good.
laboratory or molecular diagnostics lab. Rather than a specific Let us know whats important to you. Drop an email to me. Or
segment of laboratories, genetic lab tests are being performed by even better, drop an email to the president or other members of
whichever laboratory has the technology that supports it. But that the executive boardlet us know how were doing, what you think
varies from institution to institution. could be done better, what you would like to see.
However, one reason the ACT became the AGT was because of And, of course, one of the ways to have an impact on the
those changes, as well as to appeal to a broader group of laboratory organization is to not only join, but volunteer, get involved.
professionals. Run for office, volunteer. Theres quite a bit going on with the
Other factors? organization, and there are plenty of committees that could use
One of the reasons ACT was originally created was as an people to participate.
opportunity for cytogenetic technologists to share information And if it is important to you, then I also encourage you to tell
that was being developed in the laboratories, and to create your peers they should join as wellits a clich, but its true, there
continuing education opportunities. Now, access to information is strength in numbers.
isnt hard thanks to the Internet. Technologists interested in
troubleshooting or information related to their field have a world
of information at their fingertips. Cheers,
As the organization evolved, so did The Journal of the Association Mark Terry, Editor
AGT Website: www.AGT-info.org

Members Only area User Name:
First initial, Last initial and AGT ID# (Ex. CR12345)
Password: genetics
177
Case Study
A New Rhesus Macaque Karyotype Based

on Human-rhesus Synteny
Nichole M. Owen1, Helen J. Lawce2, and Susan B. Olson1,2
1Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239
2Knight Diagnostic Laboratories, Cytogenetics Laboratory, Oregon Health & Science University, Portland, OR 97239
Abstract
Rhesus macaque (Macaca mulatta), because of their similarity to humans, are often used to study complex neurobiology and anatomy,
cardiovascular disease, and in vaccine development. While the rhesus genome is studied on its own by primatologists, the grand majority of
rhesus macaque research is done with the intention of extrapolating the findings to human diseases and traits. As such, it makes sense that
the rhesus genome and karyotype be arranged based on homology to human chromosomes in an effort to ease the comparisons between
the two, and aide in interpreting data generated using rhesus macaque model systems. Various approaches have been utilized, including
linkage analyses using radiation hybrid markers and human microsatellite loci, and next generation sequencing, to create a comprehensive
rhesus genome. Here, we present for the first time, the rhesus macaque karyotype adjusted and renumbered to reflect human homology,
and to complement the newly completed sequencing data.
Introduction with Wrights stain. Metaphases were imaged using brightfield

Rhesus macaque (Macaca mulatta) is the most common non- microscopy and analyzed using Cytovision software.
human primate model used in biomedical research today, informing
a plethora of investigations from immunology to evolutionary biology. Results
Because of their similarity to humans, rhesus models have been used Karyotyping was completed as described and chromosomes
to study complex neurobiology and anatomy, cardiovascular disease, initially identified using Murphy et al., 2005, Rogers et al., 2005,
and in vaccine development, including using the highly similar and manual curation of the literature. Reassignment of rhesus
Simian immunodeficiency virus (SIV) to create a promising vaccine chromosomes was done using the numbering system proposed by
for HIV. In addition, genetic linkage analyses are common in rhesus, Zimin et al., 2014, reflecting gross human-rhesus homology (Fig.
requiring both a detailed understanding of the rhesus genome and, 1). It is obvious looking at the rhesus karyotype that large regions
importantly, how it relates to the human genome. In order to both of homology with human chromosomes exist. For instance, rhesus
accurately interpret information about human disease models, and chromosomes 5 and 8 are largely identical to human chromosomes
understand human karyotype and genome evolution, it is essential 5 and 8 and only contain minor submicroscopic differences
to not only map the rhesus genome, but also to understand how their (Murphy et al., 2005). Other chromosomes, such as chromosomes
genome relates to the human genome. 1 and 6, are largely identical, except the human karyotype has
Initial linkage analyses using radiation hybrid markers and human evolved to contain inversions that rearrange dozens of megabases
microsatellite loci were used to develop detailed maps of the rhesus worth of genetic material. The most obvious difference is the
genome in relation to the human genome (Murphy et al., 2005; fusion of chromosomes 2a and 2b in humans that has given rise
Rogers et al., 2005). These allowed for a detailed understanding of to human chromosome 2. Additionally, the human chromosomes
what appear, via karyotype analysis, to be large regions of homology 7 and 21 fused after the divergence of rhesus and human from
that sometimes encompass entire chromosomes. Later, with the their ancestral karyotype. A fission event separated the rhesus
advent of next generation sequencing, full genome sequences of chromosome 14 into human chromosomes 14 and 15. Finally, the
rhesus macaque were assembled and annotated. After assembling rhesus chromosome 15 is a derived fusion of human chromosomes
the most comprehensive rhesus genome, Zimin et al. suggested a 20 and 22, (Mller and Wienberg, 2001). Given the overwhelming
renumbering of rhesus chromosomes based on human-rhesus similarities between the genomes, we propose that the standard
synteny, rather than size, to enable easier interpretation from rhesus rhesus macaque karyotype should be modified to reflect the
studies to humans (Zimin et al., 2014). Here, we present for the first necessity of human-rhesus genetic and karyotypic comparisons.
time, the rhesus macaque karyotype adjusted and renumbered to
reflect human homology, and to complement the newly completed Discussion
sequencing data. Demand for rhesus cytogenetics is growing exponentially in
research and core service laboratories. Due to their similarities
Methods to humans, rhesus models are often used in biomedical and
Chromosome Analysis: Rhesus macaque iPSC cells were treated infectious disease research, and require the same routine cell line
with colcemid (0.05g/mL) for five hours to collect metaphases. authentication and karyotype analysis for cytogenetic abnormalities
Cells were trypsinized, pelleted, and resuspended in a hypotonic as human cell lines. While the rhesus genome is studied on its
solution (0.06 M KCl, 5% FBS) for 15 minutes prior to being fixed own by primatologists, the grand majority of rhesus macaque
with 3:1 methanol:acetic acid. Slides were made and baked at 95C research is done with the intention of extrapolating the findings
for 20 minutes, cooled, trypsinized for 45 seconds and stained to human diseases and traits. As such, it makes sense that the
178
Case Study
A New Rhesus Macaque Karyotype Based on Human-rhesus Synteny
Figure 1. Normal G-banded karyotype of rhesus macaque, 42,XY.
rhesus genome and karyotype be arranged based on homology to Jr. A new rhesus macaque assembly and annotation for next-generation
human chromosomes in an effort to ease the comparisons between sequencing analyses. Biol Direct. 2014;9(1): 20.
the two, and aide in interpreting data generated using rhesus
macaque model systems. Therefore, we suggest that this karyotype Corresponding author:
be adopted as the standard karyotype for rhesus macaque in order Susan B. Olson, PhD, Department of Molecular and Medical
to reflect homology and align with human and great ape accepted Genetics, Oregon Health & Science University, Portland, OR
karyotypes. 97239
(T): 503-494-5964
References (F): 503-494-6104
Mller S, Wienberg J. Bar-coding primate chromosomes: molecular (E): olsonsu@ohsu.edu
cytogenetic screening for the ancestral hominoid karyotype. Hum Genet.
2001;109: 85-94.
Murphy W, Agarwala R, Schaffer A, Stephens R, Smith C, Jr., Crumpler N,
David VA, OBrien SJ. A rhesus radiation hybrid map and comparative
analysis with the human genome. Genomics. 2005;86(4): 383-95
Rogers J, Garcia R, Shelledy W, Kaplan J, Arya A, Johnson Z, Bergstrom M,
Novakowski L, Nair P, Vinson A, Newman D, Heckman G, Cameron J.
An initial genetic linkage map of the rhesus macaque (Macaca mulatta)
genome using human microsatellite loci. Genomics. 2006;87(1): 30-8.
Zimin A, Cornish A, Maudhoo M, Gibbs R, Zhang X, Pandey S, Meehan DT,
Wipfler K, Bosinger SE, Johnson ZP, Tharp GK, Marcais G, Roberts M,
Ferguson B, Fox HS, Treangen T, Salzberg SL, Yorke JA, Norgren BR
179
Teaching Case Study
Acute Myeloid Leukemia with inv(16)(p13.1q22)

Juli-Anne Gardner, MD1, Katherine Devitt, MD1
1. Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT
A 47-year-old man presented with fatigue, persistent flu-like

symptoms and new onset gum bleeding. Laboratory studies were
remarkable for leukocytosis with circulating blasts (white blood cells,
35,300/L), anemia (hemoglobin, 6.5g/dL), and thrombocytopenia
(platelets, 14,000/L). A peripheral blood smear demonstrated an
absolute monocytosis (4,950/L) and 58% blasts with monocytic
features (panel A). A bone marrow biopsy revealed a hypercellular
marrow with 68% blasts with occasional auer rods (panel B) and a
population of eosinophils with basophilic granules (panels C & D).
Karyotype analysis revealed a pericentric inversion of chromosome
16 (panel E, arrow) which was confirmed by fluorescence in situ
hybridization (FISH) analysis with a CBFB break apart probe
(panel F, arrow).
Acute myeloid leukemia (AML) with inv(16)(p13.1q22) accounts
for 5-8% of all cases of AML and shows monocytic and granulocytic
differentiation and a characteristically abnormal eosinophil
component in the bone marrow. AML with inv(16)(p13.1q22) is
associated with a good prognosis in the absence of a KIT mutation.
Corresponding author:
Juli-Anne Gardner, MD, Department of Pathology and Laboratory
Medicine, University of Vermont Medical Center, Burlington, VT
05401
(T): 802-487-2700
(F): 802-847-3987
(E): Juli-Anne.Gardner@uvmhealth.org
180
Case Study
Ring Chromosome 7: A Rare Structural Abnormality in Acute

Myeloid Leukemia (AML)
Kristie Q. Liu1 and Carlos A. Tirado1
1Department of Pathology & Laboratory Medicine, UCLA, Los Angeles, CA 90024
Abstract
Ring chromosomes, often leading to partial deletions, are found in about 2% of cases of acute myeloid leukemia (AML) and are typically
associated with a poor prognosis. Herein, we present the case of a 62-year-old female who showed markedly hypercellular marrow with
sheets of myeloblasts, monoblasts, and promonocytes, confirmed by flow cytometry and consistent with acute myelomonocytic leukemia.
Cytogenetic analysis revealed an apparent monosomy 7 and a ring chromosome in all 20 metaphases analyzed. Concurrent interphase
and metaphase FISH studies revealed centromere 7 and 7q31 signals on this ring chromosome. The karyotype was then characterized
as: 46,XX,r(7).ishr(7)(p13q32)(CEP7+,D7S486+)[20]. Despite the poor prognostic indication, follow-up cytogenetic studies after treatment
revealed a normal karyotype. According to the Mitelman Database, 35 other cases of AML with r(7) have been reported. Analysis of these
cases demonstrated that r(7) was a sole abnormality in 20%, a primary abnormality in 14%, and in the context of a complex karyotype
in 66%. The most common concomitant abnormality, seen in 26% of these cases, was 5q-, though a large variety of other concurrent
abnormalities were reported at lower frequencies. The most common r(7) breakpoints were r(7)(p22q22) and r(7)(p11q11), occurring in
20% and 13% of the cases that specified breakpoints, respectively. This case study and analysis of previously reported cases demonstrates
the diversity of cytogenetic contexts in which r(7) can occur in AML and underscores the importance of FISH in the characterization of
this abnormality. Further investigation of the role of r(7) in AML and other hematological malignancies is warranted in order to properly
characterize it and concomitant abnormalities to elucidate its clinical implications.
Introduction normochromic anemia with oval macrocytes and thrombocytopenia.

Acquired ring chromosome abnormalities have been reported Initially, the patients karyotype had an apparent monosomy 7
in a number of solid tumors, but they are rare in hematological and a marker chromosome, but this marker chromosome was
malignancies and are found in only 2% of cases of acute myeloid later characterized as ring chromosome 7 after concurrent FISH
leukemia (AML). Ring chromosomes are also associated with a poor studies. After undergoing chemotherapy, the patient had a normal
prognosis (Mohamed et al., 2013). Complete or partial deletion of karyotype in October 2015. At this point, the AML comprised
chromosome 7 has been found in cases of acute myeloid leukemia, 2-3% of marrow as confirmed by immunohistochemistry. The bone
both de novo and secondary to exposure to chemicals. Since ring marrow was 70% hypercellular, but demonstrated multilineage
abnormalities can develop when breaks in the chromosome occur maturation with erythroid preponderance. Flow cytometry
with fusion of the ends, they are closely associated with deletions demonstrated 2.7% blasts and an abnormal monocytic population
of the associated chromosome. A ring chromosome also may not with aberrant expression of CD56. Peripheral smears revealed no
divide properly, often resulting in loss of the entire chromosome, circulating blasts.
explaining how in many of the cases examined there was also a
deletion of r(7) or deletion of chromosome 7 altogether. Material and Methods
Herein, we present the case of a 62-year-old female diagnosed A. Conventional Cytogenetics
with AML. Conventional cytogenetic analysis revealed an apparent Cytogenetic studies were conducted on bone marrow
monosomy 7 and a marker chromosome in all of the 20 metaphases samples using the conventional cytogenetic protocol, and
analyzed. Concurrent interphase and metaphase fluorescence in the karyotypes were reported using the ISCN nomenclature
situ hybridization (FISH) studies revealed centromere 7 and 7q31 (Shaffer et al., 2013).
signals on the marker chromosome, which characterized it as a
ring chromosome 7, conveyed as r(7)(p13q32). After undergoing B. FISH
treatment, the patient had a normal karyotype. This case will also FISH was performed on bone marrow samples with the Vysis
be analyzed in the context of 35 other cases of r(7) in AML, all of D7S486/Vysis CEP 7 (D7Z1) FISH Probe Kit in addition to
which were taken from the Mitelman Database of Chromosome the AML panel, which includes the Vysis LSI AML1/ETO
Aberrations and Gene Fusions in Cancer. Dual Color, Dual Fusion Translocation Probe, the Vysis LSI
PML/RARA Dual Color Translocation Probe Kit, the Vysis
Clinical Presentation LSI BCR/ABL ES Dual Color Translocation, the Vysis LSI
The patient is a 62-year-old female diagnosed with acute MLL Dual Color, Break Apart Rearrangement Probe Kit,
myelomonocytic leukemia. In June 2015, the patients AML the Vysis LSI CBFB Break Apart Rearrangement Probe Kit,
comprised 90% of bone marrow and was confirmed by flow and the EVI1 Tri-Color, Break Apart LPH 036. Analyses
cytometry. This patients hypercellular bone marrow also were performed on cells in interphase as well as previously
had distinctly reduced multilineage maturation. Peripheral G-banded metaphases.
smears revealed circulating blasts with 84% promonocytes and
181
Case Study
RESULTS or partial deletion of chromosome 7 is associated with a poor

A. Cytogenetics prognosis, especially when there are deletions at the long arm of
At first, cytogenetic analyses revealed an abnormal female chromosome 7 (7q-), and has been found both de novo and after
karyotype with an apparent monosomy 7 and a marker exposure to chemicals. Consequently, ring chromosome 7 is also
chromosome. However, after concurrent interphase and associated with a poor prognosis in AML. These chromosome 7
metaphase FISH studies, the marker chromosome was found abnormalities have a negative prognosis because they reveal a high
to contain chromosome 7 material in all 20 of the metaphase risk of progression to overt leukemia and are usually indicative
cells examined. The karyotype is described as 46,XX,r(7).ish of a poor response to chemotherapy. The FISH results indicated
r(7)(p13q32)(CEP 7+,D7S486+)[20]. that 5.3% of the cells were monosomy 7, which could support the
idea that monosomy 7 not only can occur from a single step, as in
nondisjunction, but also may be the result of a series of consecutive
events involving ring chromosome 7 (Sessarego et al., 1998).
Of note are the implications of monosomy 7 in the context
of AML. De novo monosomy 7 occurs in about 10% of adult
Figure 1. The karyotype revealed a ring chromosome 7

abnormality, originally characterized as a marker chromosome
before metaphase FISH studies.
B. FISH
FISH studies using the Vysis D7S486/Vysis CEP 7 (D7Z1)
FISH Probe Kit revealed loss of chromosome 7-specific
signals in 5.3% (16/300) of the nuclei analyzed, which is
suggestive of monosomy 7. These results are described as nuc.
ish(D7Z1,D7S486)x1[16/300]. FISH studies on previously
G-banded metaphases revealed the signal for the centromere
of chromosome 7 and an intact 7q31 signal on the marker
chromosome in all of the metaphases examined. These
results characterized the marker chromosome observed in
the conventional cytogenetic analysis as ring chromosome 7.
All of the other probes detected no aberrations in the nuclei
examined.
Discussion
Looking at the results of cytogenetics, the marker chromosomes
from the conventional cytogenetic analysis are characterized as ring
chromosome 7 using FISH. In the context of the FISH results,
ring chromosome 7 occurred in 284 out of 300 cells analyzed,
indicated by a normal signal pattern of two red and two green Figure 2. The top figure is the metaphase FISH results of
signals. Metaphase FISH indicated that one set of these signals chromosome 7 signals on the previously characterized marker
appeared on the marker chromosome, confirming that it is ring chromosome, allowing the characterization of this marker
chromosome 7. The close relationship between ring chromosome chromosome to change to that of ring chromosome 7. The
bottom figure shows the same results with labels and a different
7 and monosomy 7 is evident because FISH results indicated contrast.
monosomy 7 in 16 out of 300 cells analyzed, or 5.3%. Complete
182
Case Study
Table 1: Karyotypes and other information about the cases from the Mitelman Database of Chromosome Aberrations and Gene
Fusions in Cancer on r(7) in AML.
Refernce Age, Sex Year FAB type Karyotype

1 Bargesteh van N/A, M 2003 NOS 46,XY,t(3;3)(q2?3;q26),7,t(10;20)(p13;q11),+r.ishr(7)
Waalwijk van Doorn- (cen7+)[5]/46,idem,i(21)(q10)[8]/46,idem,ins(12;?)(q1?5;?)
Khosrovani et al. [2]/46,XY[4]
2 Blink et al. 2, F 2012 NOS 47,XX,r(7)(p22q22).ish r(7)(WCP7 + ,D7Z1+,D7S486-,164D18-
,3K23-),+21c
3 Chang et al. 2, F 2005 M7 47,XX,r(7),+21c
4 Chang et al. 1, M 2005 M7 47,XX,+i(1)(q10)/48-49,XX,r(7),der(8)t(8;17)(q12;q11),-17,+3-
4mars[cp]/47,XX,der (7)t(7;8)(p22;q12),t(7;17)(q36;q11),-8,-
17,+3mars
5 Chessells et al. 0, F 2002 M5 47,XX,+i(1)(q10)/48-49,XX,r(7),der(8)t(8;17)(q12;q11),-17,+3-
4mars[cp]/47,XX,der (7)t(7;8)(p22;q12),t(7;17)(q36;q11),-8,-
17,+3mars
6 Dicker et al. N/A, F 2007 M0 46,XX,r(7)(p13q11.2)[19],46,XX[1]
7 Dicker et al. N/A, F 2007 M0 46,XX,del(5)(q13q31),r(7)(p11q11),del(18)(q11)[20]
8 Forrest et al. 57, M 1998 M3 46,XY,add(1)(q21),t(1;4)(p22;q31),add(5)(q33),r(7)
(p12q36),del(11)(q21q23), t(15;17)(q22;q21)[19]
9 GFCH 68, M 1988 NOS 46,XY,r(7) and 45,XY,-7
10 Gibbons et al. 73, M 1994 M6 44,XY,r(3),-5,-6,r(7),add(10)(p1?),t(11;22)(q13;q13),add(16)
(q24) and 43,XY,r(3),-5,-6,-7,add(10),t(11;22),add(16)amlas
11 Heim et al. 1, M 1990 M2 47,XY,+21,r(7)/47,XY,+21
12 Kobayashi et al. 2, F 2005 M7 47,XX,r(7),+21c and 47,XX,+21c[1]/44,idem,-4,r(7),-
12,add(12)(q24),-17,-18,+mar[1] and 47,XX,r(7),add(17)
(p11),+21c[5]/46,XX,der(4;11)(q10;q10),add(7)(q22),add(17)
(p11),+21c[11]/46,XX,-7,-14,add(17)(p11),+21c,+mar[4]
13 Lampert et al. 7, M 1991 M1 46,XY,r(7)(p22q22)
14 Lessard et al. 51, F 2007 NOS 44,XX,t(2;7)(q33;q22),der(4)t(4;17)(p15;?) t(15;17)(?;?),der(5)
t(5;20)(q21;?),r(7), der(12)t(12;17)p13;?),-15,-17[3]/44,sl,
del(13)(q13q14)[2]/44,sdl1, +add(17)(p13),-19[cp15]
15 Link et al. 42, F 2011 NOS 46,XX,der(3)ins(3;4)(q26;q13q31)ins(3;3)(q26;q27q12)
t(3;4)(q26;p12),der (3)ins(3;3)(q26;q27q12),der(4)ins(3;4)
(q26;q13q31)t(3;4)(q26;p12),der(5)del (5)(q13q34)t(5;12)
(q34;p12),r(7)(p11q11),der(12)t(5;12)(q34;p12)/45,idem,-r (7)
16 Lugthart et al. N/A, M 2010 NOS 48,XY,der(1)t(1;3)(q43;p24),der(2)t(2;3)(q32;p?)t(3;8)
(p?;q13),der(3;8) (q10;p10),-5,+der(6)t(6;15)(q23;q14-
15),t(6;15),r(7),+8,add(12)(p11),add (17)(p11),add(17)
(q21),+r,+mar/49,idem,+8
17 Mackinnon & N/A, F 2007 NOS 46,XX,r(7),t(9;22)(q34;q11.2)[10]/45,XX,der(7)t(7;20)
Campbell (p11;q13)t(20;20)(q11;p11),t (9;22),-20[8]/46,XX,del(7)
(p11),t(9;22)/46,XX,del(5)(q?33q35),t(9;22)[2]
18 Martinez-Ramirez 65, F 2005 NOS 47,X,der(X)t(X;?18),del(5)(q13q33),t(5;11;12)
et al. (q?;q?;p?),r(7),del(18)(q?), +mar
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Case Study
19 Mohamed et al. 69, M 2013 NOS 46,XY,r(7)(p13q21)[13]/46,XY[3]

20 Nadal et al. 51, F 2008 M2 46,XX,r(7)(p?q?)[10]/45,sl,-r(7)[4]/44,sdl1,del(2)(q32q35),-
5,add(8)(p11),add(19)(p11 or q11)[6] and 46,XX,r(7),t(17;21)
(q11.1;q22)[28]/46,XX[2]
21 Olopade et al. 55, M 1992 M6 45,X,-Y,-16,-18,-18,-22,del(4)(q13q31),del(5)(q22q31),r(7)
(p2?q3?1),t(17;?(p11;?),t(17;?)(p11;?,+mar1,+mar2,+mar3,+m
ar4(8%)/43,X,-Y,same as clone 1,-13,-21(62%)/44,X,-Y,-13,-16,-
18,-18,-21,-22,del(4),del(5),r(7),t(17;?),t(17;?),+mar1,+mar2,+
mar3,+mar5,+mar6 (15%)
22 Pettenati et al. 2, M 1989 M2 47,XY,r(7),t(8;16)(q22;q24),+21c
23 Preiss et al. 63, F 2010 M1 45,XX,add(1)(p36),del(5)(q13q33),r(7),del(12)(q15q22),-
13/46,idem,-r(7),add (11)(p15),+2mar[2]
24 Radtke et al. 80, F 2009 M7 49,XX,del(5)(p13p14),der(5)t(5;9)(q11.2;q13),r(7)
(p22q11),del(9)(q34),+18,+19, +21[5]/46,XX[15]
25 Raimondi et al. N/A, F 1999 NOS 46,XX,t(12;21)(q12;q21)/46,XX,dup(1)(q21q42),r(7)
(p22q31),add(13)(q34),der (21)t(7;21)(q32;q22)
26 Raimondi et al. N/A, M 1999 NOS 46,XY,del(7)(q11)/46,idem,del(1)(q21),der(4)t(1;4)
(q21;q21),der(6)t(6;6) (p23;q15)/45,XY,ins(2)
(p23q33q37),t(3;8)(p23;p23),r(7)(p15q35),-13
27 Sato et al. 60, M 1995 M2 46,XY,del(7)(q21q36),der(12)t(3;12)(p21;p13)[4]/46,XY,r(7)
(p22q34),-12,+mar[5]/46,XY[13]
28 Schmid et al. 41, M 2012 NOS 46,XY,t(2;20)(q31;q13),der(5)t(5;5)(q33;p14),der(5)inv(5)
(p14q22)del(5) (p14),r(7),t(12;16)(p13;q12)[15]
29 Sessarego et al. N/A, M 1998 NOS 46,XY,r(7) for FISH and 46,XY[5]/46,XY,-7,+r[15] for Q-banded
metaphases
30 Tang et al. 85, M 2015 M4 45-47,XY,der(2)ins(2;11)(p13;q22q23),r(7),add(11)
(q24),r(11)x2,-15,-17,-18, +der(?)ins(?;11)(?;q22q23),+2-
5mar[cp13]/46,XY[7]
31 Wawrzyniak et al. 62, M 2013 NOS 45,XY,del(5)(q?22q?33),r(7),t(8;12)(p21;p13),-11,der(16)
t(11;16)(q?;p13)[18]/44, XY,del(5)(q?22q?33),-7,t(8;12)
(p21;p13),-11,der(16)t(11;16)(q?;p13)[5]/46,XY[3]
32 Wawrzyniak et al. 69, F 2013 NOS 44,XX,der(3)t(3:?)(p21;?),del(5)(q13q31),-6,der(7)t(7;?)
(q11;?),dic(8;17)(p21;q11),der(11)t (11;17)(p15;q?21),-
19,der(20)t(20;?)(p12;?)t(6;20)(q13;q13),+mar[14]/43,XX,-
3,del (5)(q13q31),r(7),der(11)t(11;17)(p15;q?21),der(11)
t(11;?)(q25;?),-17,-18[5]/46,XX[6]
33 Wieser et al. 58, F 2000 M4 46,XX,inv(3)(q21q26),r(7)[10]
34 Zhao et al. N/A, F 1993 NOS 46,XX,r(7)(p?)/47,XX,+mar
35 van den Heuvel- 80, M 2001 M7 46,XY,r(7)
Eibrink et al.
AML and 5-7% of pediatric AML. Monosomy 7 is also the most in distal and proximal breakpoints also suggests that chromosome
common cytogenetic abnormality in leukemic cells with therapy- 7 deletions may be important in leukemogenesis because of the loss
related AML, but it rarely occurs as a sole abnormality. Cytogenetic of function of a tumor-suppressor gene within the deleted segment,
studies of 44 patients with 7q deletions at the University of but further studies are needed to pinpoint the region where this
Chicago also characterized 7q22 and 7q32-34 as possible critical gene is located. Generally, however, existing evidence suggests that
regions in the development of myeloid leukemia. The variability loss of chromosome 7 material is not an initiating event in AML,
184
Case Study
since it has been found in so many settings in which the condition without a Philadelphia chromosome. A multicenter study of 55 patients.
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to r(7), since it often involves loss of material and is associated with strongly associated with AML1/RUNX1 mutations and increased FLT3
monosomy 7. Here, the region of interest will be 7q31. expression in acute myeloid leukemia. Blood. 2007 Aug 15;110(4): 1308-
A query of the Mitelman Database of Chromosome Aberrations 16. Epub 2007 May 7..
and Gene Fusions in Cancer revealed 35 cases of r(7) in AML, Forrest DL, Nevill TJ, Horsman DE, Brockington DA, Fung HC, Toze
CL, Conneally EA, Hogge DE, Sutherland HJ, Nantel SH, Shepherd
none of which had r(7) as a secondary abnormality. Analysis of
JD, Barnett MJ. Bone marrow transplantation for adults with acute
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Lampert F, Harbott J, Ritterbach J. [Chromosome aberrations in acute
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pilot study. Bone Marrow Transplant. 2012 Jan;47(1): 46-53. doi: 10.1038/
bmt.2011.15. Epub 2011 Feb 28.
Sessarego M, Fugazza G, Gobbi M, Bruzzone R, Bisio R, Ghio R, Patrone
F. Complex structural involvement of chromosome 7 in primary
myelodysplastic sy ndromes determined by f luorescence in situ
hybridization. Cancer Genet Cytogenet. 1998 Oct 15;106(2): 110-5.
Shaffer L , McGowan-Jordan J, Schmid M (Eds): ISCN (2013): An
International System for Human Cytogenetic Nomenclature. Basel: S.
Karger; 2013.
Tang G, DiNardo C, Zhang L, Ravandi F, Khoury JD, Huh YO, Muzzafar T,
Medeiros LJ, Wang SA, Bueso-Ramos CE. MLL gene amplification in
acute myeloid leukemia and myelodysplastic syndromes is associated with
characteristic clinicopathological findings and TP53 gene mutation. Hum
Pathol. 2015 Jan;46(1): 65-73. doi: 10.1016/j.humpath.2014.09.008. Epub
2014 Oct 2.
van den Heuvel-Eibrink MM, Wiemer EA, de Boevere MJ, Slater RM, Smit
EM, van Noesel MM, van der Holt B, Schoester M, Pieters R, Sonneveld
P. MDR1 expression in poor-risk acute myeloid leukemia with partial or
complete monosomy 7. Leukemia. 2001 Mar;15(3): 398-405.
Wawrzyniak E, Wierzbowska A, Kotkowska A, Siemieniuk-Rys M, Robak
T, Knopinska-Posluszny W, Klonowska A, Iliszko M, Woroniecka R,
Pienkowska-Grela B, Ejduk A, Wach M, Duszenko E, Jaskowiec A,
186
Molecular Diagnostics
Column Editor: Michelle Mah, MLT, MB(ASCP)CM
A Brief Reflection
By Michelle Mah & Anna Haasen
For the last issue in 2015, I wrote about the ushering of clinical In the example of the NanoString nCounter expression assay
genome diagnostics into the field of molecular pathology. Although the lab is testing, the use of probes attached to fluorescently labeled
whole genome sequencing is still uncommon ground in most molecular barcodes (made up of short strings of nucleotides) are
diagnostic labs, large targeted gene panels that encompass thousands hybridized to targeted sequences of interest. After the hybridization,
of sequence targets have become increasingly practical to integrate the probe-target complexes are immobilized onto the nCounter
into routine. cartridge and the individual fluorescent barcodes are counted by
The manual part of technologist workflow remains for the large the nCounter digital analyzer. The output is number of counts for
part unchanged. They produce next-generation sequencing (NSG) each target of interest per sample. Normalization of these counts
libraries which are enriched and subsequently amplified target to positive controls evaluates differential gene expression. When
sequences that will undergo massively parallel sequencing. On the assessing results at the nanoscale, sensitivity and precision is
other hand, the computer programs and commercial software used remarkable, which endorses nanoscale platforms at the forefront of
for sequencing and variant analysis has improved. The development personalized medicine.
and streamlining of the post-sequencing workflow, such as employing The most recent news about nanotechnology used in sequencing
the most appropriate programs for sequence quality filtering and is from the company Oxford Nanopore Technologies (Oxford,
variant interpretation, has increased productivity. The part of the UK). They have created what has been referred to as the third-
week devoted to the use of spreadsheets and multiple software generation sequencers (the generation after NGS), where a single
programs (sometimes for the same purpose!) has been thankfully DNA or RNA molecule is threaded through a protein nanopore
reduced. that resembles a cross membrane protein channel. The change in
For the alignment of genomic sequences and processing of nucleotide sequences alters the normal current that flows through
those sequences (also called sequencing reads), the bioinformatics the nanopore and is measured by a nanopore device that comes
team in our lab (composed of research associates with expertise in in two available models. They are the pocket-sized MinION, which
computational biology) has assembled a customized analysis pipeline measures up to 512 nanopore channels, and the PromethION, which
to intake raw sequence files and output variant call files called VCFs. is the benchtop version that can measure over a million nanopore
VCFs that contain high quality variants are extremely important channels. The portable MinION, which is four inches long and one-
for downstream reporting. For example, a technologist would inch wide, makes the notion of a DNA sequencer in every pocket a
further evaluate and prioritize variants from the VCF for formal very real possibility.
interpretation using specialized variant assessment and organization
platforms. If I had to make a direct comparison, I think as labs Towards NGS Standardization as Technology Matures
accumulate more experience in running NGS assays, looking at a and Labs Gain More Experience
VCF should be as informational as looking for targeted bands in a I recently attended the Toronto leg of the Ion World 2016 hosted
PCR agarose gel. by ThermoFisher Scientific, and learned a little more about its Ion
S5 and S5 XL sequencers. I was excited to learn about the companys
Nanotechnology in Molecular Diagnostics partnership with The Ontario Institute for Cancer Research (OICR)
Most of my column content has focused on NGS in the molecular in facilitating a collaborative partnership between leading healthcare
lab. When our lab recently acquired a new non-sequencer called the institutions in Ontario with the goal to provide better breast cancer
NanoString nCounter (NanoString Technologies, Inc., Seattle, WA), care in the province. Participating labs will use the 143 targeted
my interest in nanotechnologies was piqued. Nanotechnology with cancer gene panel on the Ion S5 XL sequencer. This is the same gene
applications in biology has been around for over a decade. As the panel used in the National Cancer Institute-Molecular for Therapy
name implies, it takes molecular diagnostics to the nanoscale. Nano- Choice Trial (NCI-MATCH) offered in many clinical sites in the U.S.
is a unit of the metric system and it is defined by a factor of one that started last August.
billionth, that is 0.000 000 001. Wikipedia defines one nanometer One of the expectations is to work towards the possibility of
as the length of three gold atoms! standardizing NGS workflows from sample processing to variant
In everyday molecular genetics and molecular cytogenetics, we calling. The construction of a shared database of knowledge and
frequently work with micro and nano amounts of DNA and RNA. expertise is scalable and can certainly extend to other forms of cancer.
There are NGS assays that use as low as 10 nanograms of DNA per
sample. To provide some prospective on how minuscule this amount Sources
is, the amount of nuclear DNA in one human diploid cell is about 6 Biotechnology Focus. Aug 2016. New retrospective study aims to identify
picograms, which is equal to 0.006 nanograms, so 10 nanograms is mutations to better diagnose breast cancer. http://biotechnologyfocus.
approximately 1,500 cells. The use of nanotechnology in molecular ca/new-retrospective-study-aims-identify-mutations-better-diagnose-breast-
diagnostics is the conversion of single strings of nucleotides directly cancer/
Cheng L. Molecular Genetic Pathology. Springer Publishing; 2013.
into electronic signatures that can be measured by different analyzers.
Hovelson DH Hovelson DH, McDaniel AS, Cani AK, Johnson B, Rhodes K,
Amplification of targeted sequences is not required, so the upfront Williams PD, Bandla S, Bien G, Choppa P, Hyland F, Gottimukkala R,
work is significantly less and faster. Liu G, Manivannan M, Schageman J, Ballesteros-Villagrana E, Grasso
187
Molecular Diagnostics
Column Editor: Michelle Mah, MLT, MB(ASCP)CM
A Brief Reflection
CS, Quist MJ, Yadati V, Amin A, Siddiqui J, Betz BL, Knudsen KE,
Cooney KA, Feng FY, Roh MH, Nelson PS, Liu CJ, Beer DG, Wyngaard
P, Chinnaiyan AM, Sadis S, Rhodes DR, Tomlins SA. Development and
validation of a scalable next-generation sequencing system for assessing
relevant somatic variants in solid tumours. Neoplasia. 2015;17(4): 385-399.
Miglani GS. Developmental Genetics. IK International Publishing House; 2013.
NanoString Technologies company website: http://www.nanostring.com/
elements/tagsets
Oxford Nanopore Technologies company website: https://nanoporetech.com/
how-it-works
Yong E. April 2016. A DNA Sequencer in Every Pocket. The Atlantic.
Available on the World Wide Web: http://www.theatlantic.com/science/
archive/2016/04/this-technology-will-allow-anyone-to-sequence-dna-
anywhere/479625/
By Michelle Mah, MLT, MB(ASCP)CM
188
189
Profiles and Perspectives
Column Editor: Hon Fong L. Mark, PhD, MBA, FACMG
Claudia Wiersch, B.S.

Interviewed by Dr. Hon Fong L. Mark
Claudia Wiersch was once a happy stay-at-home mom. She thought that
having a family would be enough for her. She soon found that she wanted
more engagement in the bigger world. Her father was a scientist. She
thinks she inherited his curiosity and analytical mind. The first time that
I met Claudia was at Brown University/RI Hospital. I needed additional
technical help for chromosome analysis.
CW: I still love my family, but I also love the experiences I have had in
science. I started out in clinical cytogenetics, but found the balance of
techniques are taught in the program as well, which is
home in Connecticut, work in Providence and a long commute hard to
fantastic.
balance. I went to work at a biotech company performing gold particle
and DNA bombardment experiments to create transgenic corn. Very HFLM: Who do you consider your most important mentors in
little was in the news at that time about genetically modified organisms genetics at the various levels?
(GMO) and the work was a blast, literally. CW: There are so many talented people that I have had the
pleasure to meet and work with, its hard to say
HFLM: After that she was at a pharmaceutical company, using
her cytogenetic expertise in the risk assessment of developing drugs. HFLM: What do you consider to be the most interesting or
Company restructuring and outsourcing eliminated that job. She worked most important project that you have ever done? Please
under a grant at an aquarium, then at a manufacturing facility that elaborate.
made ointments and creams in quality assurance, performing annual CW: My career in clinical cytogenetics was interrupted by family
product reviews and releasing product. How she missed cytogenetics. obligations, but I never lost my love for chromosomes. I
worked in a genetic toxicology laboratory at a pharmaceutical
CW: Luckily, a full circle has found her about to embark on another company, looking for effects that drug candidates may have
adventure back into a cytogenetics laboratory, this time with a world of on chromosomes from healthy donors. Many labs are using
experience. mouse lymphoma cells now for drug safety studies, but we
used human lymphocytes.
HFLM: As a bright young woman, obviously there were many HFLM: You did grow to love flow cytometry as well. You worked
options open to you when you decided to go to college. for a while at the Mystic Aquarium in Connecticut
What was the main reason that you decided to attend performing immunophenotyping on wild and captured
The University of Connecticut School of Allied Health whales and dolphins, supporting stress studies on these
(Mark, 1999; Mark, 2000)? animals for Dr. Trac Romano.
CW: I had two wonderful science professors, Professor Copeland CW: Working in an environment where animals other than
and Professor Kirkpatrick, at what was then Mohegan humans are a top priority was a real eye-opening and
Community College, who encouraged me to explore the humbling experience.
sciences. Professor Kirkpatrick mentioned this field of
cytogenetics, and I was instantly interested and applied to HFLM: What do you think is the most urgent scientific question
the University of Connecticut program. to be answered in our field in the coming years?
HFLM: Why did you choose to enter this specialized field of CW: How is basic science going to thrive in our current
genetics? environment? There is so much pressure to produce
something practical, which is important, but sometimes
CW: Really, I fell in love with chromosomes. I loved looking the practical doesn't arrive until some basic questions are
at them under the microscope and when I realized the answered.
information that could be gleaned from their banding
patterns, I know I found something I wanted to study. HFLM: What do you think is the most pressing nonscience-
related problem facing molecular geneticists today?
HFLM: Please describe your training. CW: How do we scientists continue to engage the public about
CW: The University of Connecticut has a wonderful Medical scientific matters, so people will love and support science
Laboratory Science Program. When I went, the specialty of through philanthropy, voting, and general understanding.
cytogenetics encompassed the theoretical, the practical and HFLM: In what direction do you see molecular genetics going
the ethical facets of this discipline. It was all cytogenetics in the next century?
at the time I went, but now the molecular diagnostic
190
Profiles and Perspectives
CW: I think people are becoming more well versed in genetics,

and I dont see that change reversing.
HFLM: What advice would you give a young person today who
has an interest in going into the field of molecular
genetics?
CW: Get into a good program with a strong clinical component.
Be interested and curious about everything you come
across.
HFLM: If there is one thing that you can change about the
genetics marketplace today, what would it be?
CW: Educate and explain what the genomic tests are and how
they can really help a cancer patient or an expectant parent.
HFLM: This column often ends with a saying or an important
piece of advice. Before ending this very interesting
interview, is there something you would like to share
with our readers?
CW: Care deeply about everything you do. Never stop learning
or box yourself into a corner.
HFLM: If you can do it all over again, would you still be
commuting?
CW: I might have moved closer to a big city where the
opportunities are greater. I have no regrets, and I am sure
I went places that were right for me at the time. I believe in
an unfolding universe.
HFLM: We wish you a safe flight as you begin another journey
home.
References
Mark HFL. Cytogenetics in the 1960s. J Assoc Genet Tech.
1999;26: 72-73.
Mark HFL. Medical Cytogenetics. New York: Marcel Dekker;

2000.
Hon Fong L. Mark, PhD, MBA, FACMG, Editor of the cytogenetics

textbook, Medical Cytogenetics, is President of KRAM Corporation, a
small consulting firm specializing in medical genetics, grant review and
scientific review administration. Dr. Mark is a Clinical Cytogeneticist
board-certified by the ABMG (1993), and was formerly Director of
Cytogenetics and Clinical Professor at the Lifespan Academic Medical
Center/Brown University in Providence, RI, Director of Human
Genetics, RIDOH, also in Providence, RI, and Director of the
Cytogenetics Department at Presbyterian Laboratory Services/Novant
Health in Charlotte, N.C. She was recruited to the Boston University
School of Medicine as Director of the Cytogenetics Laboratories (and
Clinical Professor of Pathology and Laboratory Medicine) in 2004, a
position from which she resigned in 2007. This column is dedicated
to the technologists and laboratory directors in all the cytogenetics
laboratories in the U.S. and throughout the world whom she had the
good fortune of meeting through the years.
191
Brain Tickler
Brain Tickler Summary

(see inside front cover)
Results: 46,XX,der(4)t(4;11)(p16.3;p15.4)
Based upon microarray analysis, there is an
approximately 3.81 Mb terminal deletion of 4p16.3,
the Wolf-Hirschhorn syndrome (WHS) deletion
region.
Fluorescence in situ hybridization (FISH) showed a

deletion in the WHS region of chromosome 4.
There is also a 3.29 Mb gain of probe regions on
chromosome 11p15.5 by microarray.
FISH with an 11p15.5 probe showed signal on both

chromosomes 11 and on one chromosome 4 short
arm.
Therefore there is a derivative chromosome 4,

presumably from a parental translocation between
chromosomes 4 and 11.
Genetic counselling was recommended.
192
Column Editor: Sally J. Kochmar, MS, CG(ASCP)CM
Test Yourself #4, 2016

Readers of The Journal of the Association of Genetic Technologists are invited to participate in this open book test as an opportunity to
earn Contact Hours. AGT offers 3 Contact Hours for this Test Yourself based on articles in Volume 42, Number 3, Third Quarter 2016
of the Journal.
Test Yourself is free to AGT members and $30 for non-members. To take this exam, send a copy of your completed Answer Sheet
along with the completed Contact Hours Reporting Form to the AGT Education Committee Representative in your region. The list of
representatives is on page 196 of this issue. Non-members should submit a check payable to AGT for $30 with their answer sheet. Entry
material must be post-marked on or before March 1, 2017.
Passing score is 85% or 17 out of 20 questions answered correctly. Compiled by Doina Ciobanu and Sally Kochmar.
The following questions are from Fonseka L et al. JAK2 in the

Diagnosis and Treatment of Lymphoid Malignancies: A Review 6. It has been reported that a ___-___ fusion can occur in
of the Literature. J Assoc Genet Technol. 2016;42(3): 98-103. pediatric T-ALL, resulting in constitutive activation of
1. In 2016, there will be an estimated ___ new cases of CLL in tyrosine kinases.
the United States. I. BCR-ABL1
a. 6,590 II. IKZF1-CDKN2A
b. 1,896 III. IKZF1-CDKN2B
c. 19,860 IV. ETV6-JAK2
d. 18,960
The following questions are from Fonseka L et al. Telomerase in
2. Mutations at the JAK2 locus are involved in: Acute Myeloid Leukemia: A Molecular Update on Diagnosis,
I. B-cell chronic lymphocytic leukemia Prognosis, and Treatment. J Assoc Technol. 2016;42(3): 105-110.
II. Hodgkins lymphoma

7. All of the following are true except:
III. acute lymphoblastic leukemia
I. AML is expected to cause about 10,460 deaths in the
IV. multiple myeloma United States in 2016.
II. Patients diagnosed with AML have a 25.9% five-year
a. I, II and III survival rate.
b. I, III and IV III. A normal bone marrow sample contains about 20%
c. I and II only myeloblasts.
d. all of the above IV. Early symptoms of AML include fever, fatigue and
soreness.
3. Type I JAK inhibitors attempt to bind to the kinase in its
inactive form. 8. According to the American Cancer Society, translocations or
a. true inversions of chromosome 3 are an unfavorable prognosis in
b. false AML.
4. All of the following are correct, except: I. true

II. false
a. The JAK2 locus is on 9p24.
b. Most mutations involving the JAK2 gene in lymphoid 9. Choose the correct statement:
malignancies are translocations between JAK2 and other
genes. a. Human telomeres consist of TTAACCC repeats.
c. The Janus kinase family includes JAK1, JAK2, JAK3 and b. DNA polymerase in standard DNA replication creates
TYK2. strands that are 500-2000 base pair shorter than the
d. Patients with Ph-like ALL have a good prognosis. original strand.
c. When telomere ends are reduced sufficiently, it triggers
cellular senescence.
5. According to this article, in a study of T-ALL, two JAK2 d. Telomerase decreases telomere length.
mutations were revealed to lead to constitutive JAK-STAT
pathway activation. These mutations are:
a. M9291and M9290
b. V617F and H574R
c. H574R and R683G
d. H574R and M9291
193
10. Which of the following is a favorable cytogenetic 15. IQMH requirements include guidelines categorized into ___
abnormality in AML? tenets of quality management.
I. deletion 5 a. ten
II. translocation (6;9) b. twelve
III. inversion 16 c. eleven
IV. 11q23 abnormalities d. fifteen
11. Some novel therapies of AML are:

16. IQMH requirement VIII.1 MD104 includes descriptive
I. mesoindigo requirements to determine NGS metrics such as depth of
II. sodium metaarsenite coverage, passing quality filters and alignment of sequences.
III. sorafenib
a. true
IV. developing LSC strategies
b. false
a. I, II and IV
The following questions are from Mark HFL. Dr. Sheila Dobin. J
b. I, II and III
Assoc Genet Technol. 2016; 42(3): 114-117.
c. I and IV only
d. All of the above 17. Who introduced Dr. Dobin to cytogenetics?
a. Dr. Howell
The following questions are from Mah M. Training to Strive for b. Dr. Friedman
Continuous Improvement. J Assoc Genet Technol. 2016;42(3): c. Dr. Shaw
112-113. d. Dr. Moore
18. What is Dr. Dobins most urgent scientific question that

12. IQMH requirements include guidelines for:
should be answered in the near future?
I. equipment, reagents and supplies
a. knowledge about function of genes
II. quality assurance
b. learning about losses seen on microarrays
III. laboratory information systems
c. interpreting microarray results
IV. safety
d. understanding meaning of gains seen on microarrays
a. I, II and IV
19. Dr. Dobin did her postdoctoral fellowship at:
b. II, III and IV
c. I, II and III a. Memorial Hospital in Temple, Texas
d. All of the above b. UT Graduate School in Houston
c. UT Southwestern
13. The Institute for Quality Management in Healthcare d. Scott & White Memorial Hospital
manages all of the following, except:
20. All of the following are true, except:
a. Centre for Accreditation
b. Centre for Quality Testing a. Dr. Dobin went to Jones High School.
c. Centre for Proficiency Testing b. Dr. Dobin credits Dr. Howell with saving her future
d. Centre for Education career.
c. Dr. Dobin always wanted to study and do research in
14. Choose the correct statement: genetics.
d. Dr. Dobin started her PhD at the University of Texas
a. IQMH evolved from the Quality Management Program-
Graduate School of Biomedical Sciences in Houston.
Laboratory Services in 2012.
b. QMS-LP was responsible for providing proficiency
testing since the 1960s.
c. The Institute for Quality Management in Healthcare is a
for-profit corporation.
d. Rebranding to IQMH has allowed the organization to
gain a broader international presence.
194
Answer Sheet Please Print Clearly Answers to Test Yourself #3, 2016
Passing Score: (passing score
1.____ 7.____ 13.____ 19.____ is 21/24 or 87%)
2.____ 8.____ 14.____ 20.____ 1. b 7. c 13. d 19. d
9.____ 15.____ 2. d 8. d 14. a 20. d
3.____
3. a 9. a 15. b 21. d
4.____ 10.____ 16.____ 4. c 10. b 16. d 22. c
5.____ 11.____ 17.____ 5. c 11. c 17. d 23. c
6.____ 12.____ 18.____ 6. a 12. d 18. a 24. c
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2015-2016 AGT Education Committee Regional Representatives

If you have questions or experience difficulty locating your representative, please contact the AGT Education Director (see page 162 for address).
Great Lakes Mountain States Northern Pacific Texas

(Illinois, Indiana, (Arizona, Colorado, Idaho, (Alaska, Northern (Texas)
Michigan, Minnesota, Montana, New Mexico, California, Oregon, Su Yang
Ohio, Wisconsin) Utah, Wyoming) Washington) Cytogenetics Laboratory
Audra Birri Uma Van Roosenbeek Christine Donovan U.T. M.D. Anderson Cancer
Cincinnati Children's Hospital 574 W. Vekol Ct. University of Washington Center
Cytogenetics Laboratory Casa Grande, AZ 85122 Medical Center 1515 Holcombe Blvd.
TCHRF Room 1003 520-509-1130 Cytogenetics Laboratory Unit 350
3333 Burnet Ave. umaswati@gmail.com Box 356100 Houston, TX 77030
Cincinnati, Ohio 45229 1959 NE Pacific 713-792-6330
513-636-4474 Seattle, WA 98195 713-745-3215 FAX
513-636-4373 FAX New England 206-598-4489 suyang@mdanderson.org
Audra.Birri@cchmc.org (Connecticut, Maine, 206-598-2610 Fax
Massachusetts, chrisd19@u.washington.edu Canada
Great Plains New Hampshire, Michelle Mah
Rhode Island, Vermont) Southeast Advanced Diagnostics Lab
(Arkansas, Iowa, Kansas,
Gail Bromage (Alabama, Florida, Princess Margaret Cancer
Missouri, Nebraska,
DIANON Systems, Inc. Centre
North Dakota, Oklahoma, Georgia, Kentucky,
Cytogenetics Laboratory University Health Network
South Dakota) Louisiana, Mississippi, North 610 University Ave.
1 Forest Parkway
Julie Carstens Shelton, CT 06484
Carolina, South Carolina, Toronto, Ontario
Cytogenetics Laboratory 800-328-2666 Tennessee) Canada M5G 2M9
Munroe-Meyer Institute 203-380-4554 FAX Joan Bishop 416-946-4501 ext.5036
985440 Nebraska Medical gbromage@sbcglobal.net Greenwood Genetics Center michelle.j.mah@gmail.com
Center 106 Gregor Mendel Circle
Omaha, NE 68198-5440 Greenwood, SC 29646
New York State Non-U.S./Canada
402-559-4965 864-388-1719
402-559-7248 FAX (New York) 864-941-8133 FAX Sally Kochmar
jcarsten@unmc.edu jtbishop@ggc.org Pittsburgh Cytogenetics
Laura Benz Laboratory
4756 Black Warrior Road Magee-Womens Hospital
Mid-Atlantic Truxton, NY 13158 Southern Pacific ofUPMC
607-842-6009 300 Halket St., Suite 1233
(Delaware, District of benzl@upstate.edu (Hawaii, Nevada,
Pittsburgh, PA 15213
Columbia, Maryland, Southern California) 412-641-4882
New Jersey, Pennsylvania, Shree Merchant 412-641-2255 FAX
Virginia, West Virginia) 27391 Silver Creek Dr. skochmar@upmc.edu
Deborah Ketterer San Juan Capistrano, CA
Pittsburgh Cytogenetics 92675
Laboratory 949-231-0327 At-Large
Magee-Womens Hospital sharegeneticknowledge@gm Doina Ciobanu
ofUPMC ail.com 487 Burns Rd.
300 Halket St., Room 1229 Fair Haven, VT 05743
Pittsburgh, PA 15213 cdoini@gmail.com
412-641-6688
412-641-2255 FAX
dmketterer@verizon.net
196
The AGT Education Committees Journal Club
Journal Clubs are a great way to earn Contact Hours without leaving your home or lab! Journal Clubs can be completed as
a group or individually. Each Journal Club includes a reading list, several discussion questions and a post-test. The discussion
questions provide a starting point for group discussion and give individuals taking a Journal Club questions to consider while
reading the articles. The post-test is taken after reading the articles and is returned to the regional representatives of the
Education Committee to be graded.
Each successfully completed Journal Club is worth 4.0 Contact Hours. Journal Clubs can be ordered through the AGT
Executive Office.
READING LIST 54 General Content Area: Peripheral Lymphocytes at Different Cell- GABARAP and DLG4 are Associated with
Chromosome Breakage Syndromes2006 Cycle Phases Vulnerability to Nicotine Dependence in
1. Chromosome Breakage Syndromes and European-Americans
READING LIST 58 General Content Area:
Cancer 2. Genomewide Linkage Scan for Nicotine
Solid Tumor and FISH2007
2. DEB Test for Fanconi Anemia Detection in Dependence: Identification of a
1. Methylthioadenosine Phosphorylase Chromosome 5 Risk Locus
Patients with Atypical Phenotype
Gene Deletions are Frequently Detected
3. Nijmegen Breakage Syndrome: Clinical 3. Genetic Linkage to Chromosome 22q12
by Fluorescence in situ Hybridization in
Manifestation of Defective Response to for a Heavy-Smoking Quantitative Trait in
Conventional Chondrosarcoma
DNA Doublestrand Breaks Two Independent Samples
2. Solid Pseudopapillary Neoplasms of
READING LIST 55 General Content Area: the Pancreas are Associated with READING LIST 62 General Content Area:
Array Based Prenatal Genetics2006 FLI-1 Expression, but Not with EWS/FLI-1 Somatic Mutation Detection2007
1. Array-based Comparative Genomic Translocation 1. Inferring Somatic Mutation Rates Using
Hybridization Facilitates Identification 3. High Incidence of Chromosome 1 the Stop-Enhanced Green Fluorescent
of Breakpoints of a Novel der(1)t(1;18) Abnormalities in a Series of 27 Renal Protein Mouse
(p36.3;q23)dn in a Child Presenting with Oncocytomas: Cytogenetic and 2. Paternal Age at Birth is an Important
Mental Retardation Fluorescent In Situ Hybridization Studies Determinant of Offspring Telomere
2. Detection of Cryptic Chromosome Length
Aberrations in a Patient with a Balanced 3. Genome-Wide SNP Assay Reveals
Treatment of Prader-Willi Syndrome with
t(1;9)(p34.2;p24) by Array-based Structural Genomic Variation, Extended
Growth Hormone2008
Comparative Genomic Hybridization Homozygosity and Cellline Induced
1. Two Years of Growth Hormone Alterations in Normal Individuals
3. Jumping Translocations in Multiple
Therapy in Young Children with
Myeloma READING LIST 63 General Content
Prader-Willi Syndrome: Physical and
READING LIST 56 General Content Area: Neurodevelopmental Benefits - American Area: Polyglutamine Neurodegenerative
Leukemia2007 Journal of Medical Genetics Part A, Disorders2007
1. Fluorescence in situ Hybridization Analysis Volume 143A, Issue 5, pages 443-448, 1 1. CAG- Encoded Polyglutamine Length
of Minimal Residual Disease and the March 2007 Polymorphism in the Human Genome
Relevance of the der(9) Deletion in 2. Growth Hormone Therapy and Scoliosis 2. Polyglutamine Neurodegenerative
Imatinib-treated Patients with Chronic in Patients with Prader-Willi Syndrome Diseases and Regulation of Transcription:
Myeloid Leukemia 3. Cause of Sudden, Unexpected Death Assembling the Puzzle
2. Characterization of the t(17;19) of Prader-Willi Syndrome Patients with or 3. Pathogenesis and Molecular Targeted
Translocation by Gene-specific without Growth Hormone Treatment Therapy of Spinal and Bulbar Muscular
Fluorescent in situ Hybridizationbased READING LIST 60 General Content Area: Atrophy
Cytogenetics and Detection of the
Generics of Autism2008 READING LIST 64 General Content Area:
E2A-HLF Fusion Transcript and Protein in
1. 15q11-13 GABAa Receptor Genes are Clinical Applications of Noninvasive
Patients Cells
Normally Biallelically Expressed in Diagnostic Testing2008
3. Combination of Broad Molecular
Brain yet are Subject to Epigenetic 1. Digital PCR for the Molecular Detection
Screening and Cytogenetic Analysis for
Dysregulation in Autism-Spectrum of Fetal Chromosomal Aneuploidy
Genetic Risk Assignment and Diagnosis
Disorders 2. Noninvasive Testing for Colorectal
in Patients with Acute Leukemia
2. Characterization of an Autism- Cancer: A Review
READING LIST 57 General Content Associated Segmental Maternal 3. Novel Blood Biomarkers of Human Urinary
Area: Premature Chromosome Heterodisomy of the Chromosome 15q11- Bladder Cancer
Condensation2007 13 Region
1. Premature Chromosome Condensation 3. 15q Duplication Associated with Autism READING LIST 65 General Content Area:
in Humans Associated with Microcephaly in a Multiplex Family with a Familial Diabetes2010
and Mental Retardation: A Novel Cryptic Translocation t(14;15)(q11.2;q13.3) 1. The Development of c-MET Mutation
Autosomal Recessive Condition Detected Using Array-CGH Detection Assay
2. Chromosome Condensation: DNA 2. Molecular Mechanisms of Insulin
Compaction in Real Time Resistance in Chronic Hepatitis C
Genetics of Nicotine Addiction2008
3. Phosphatase Inhibitors and Premature 3. A Genetic Diagnosis of HNF1A Diabetes
1. Fine Mapping of a Linkage Region
Chromosome Condensation in Human Alters Treatment and Improves
on Chromosome 17p13 Reveals that
197
Glycaemic Control in the Majority of Mass in Dominican Families: The READING LIST 75 General Content Area:
Insulin-Treated Patients Family Study of Stroke Risk and Carotid Multiple Myeloma: Molecular Markers and
Atherosclerosis Tests2010
3. Genome-Wide Association Study 1. Multiple Myeloma: Lusting for NF-B
Diabetes2010
Identifies Single-Nucleotide 2. Functional Interaction of Plasmacytoid
1. Distribution of Human Papillomavirus Polymorphism in KCNB1 Associated with
Genotypes in Invasive Squamous Dendritic Cells with Multiple Myeloma
Left Ventricular Mass in Humans: The Cells: A Therapeutic Target
Carcinoma of the Vulva HyperGEN Study
2. Distribution of HPV Genotypes in 282 3. High-resolution genomic profiles define
Women with Cervical Lesions: Evidence READING LIST 71 General Content Area: distinct clinico-pathogenetic subgroups
for Three Categories of Intraepithelial Detection of Clarithromycin Resistance in of multiple myeloma patients
Lesions Based on Morphology and HPV H. Pylori2010 READING LIST 76 General Content Area:
Type 1. Rapid Detection of Clarithromycin Colorectal Cancer and Loss of Imprinting
3. Evaluation of Linear Array Human Resistance in Helicobacter Pylori Using a of IGF22010
Papillomavirus Genotyping Using PCR-based Denaturing HPLC Assay 1. Loss of imprinting of IGF2 as an
Automatic Optical Imaging Software 2. Rapid Screening of Clarithromycin epigenetic marker for the risk of human
Resistance in Helicobacter Pylori by cancer
Pyrosequencing 2. Temporal stability and age-related
Pancreatic Cancer and its Biomarkers2010
3. Quadruplex Real-Time PCR Assay prevalence of loss of imprinting of the
1. Molecular Profiling of Pancreatic
Using Allele-Specific Scorpion insulin-like growth factor-2 gene.
Adenocarcinoma and Chronic
Primers for Detection of Mutations 3. Epigenetics at the Epicenter of Modern
Pancreatitis Identifies Multiple Genes
Conferring Clarithromycin Resistance to Medicine
Differentially Regulated in Pancreatic
Helicobacter pylori
Cancer READING LIST 77 General Content Area:
2. Effect of Recombinant Adenovirus Vector READING LIST 72 General Content Area:
Health Effects Associated with Disruption of
Mediated Human Interleukin-24 Gene Werner Syndrome Gene2010
Circadian Rhythms2011
Transfection on Pancreatic Carcinoma 1. Telomeric protein TRF2 protects Holliday
1. Circadian Polymorphisms associated with
Growth junctions with telomeric arms from
Affective Disorders
3. Highly Expressed Genes in Pancreatic displacement by the Werner syndrome
2. A new approach to understanding
Ductal Adenocarcinomas: A helicase
the impact of Circadian Disruption on
Comprehensive Characterization and 2. WRN controls formation of
Human Health
Comparison of the Transcription Profiles extrachromosomal telomeric circles
Obtained from Three Major Technologies 3. Circadian Rhythm and its Role in
and is required for TRF2DeltaBmediated
Malignancy
telomere shortening
Influenza A(H1N1) Virus2010
3. Sequence-specific processing of READING LIST 78 General Content Area:
telomeric 3' overhangs by the Werner Role of Hedgehog Signaling Pathway in
1. Detection of Influenza A(H1N1)v Virus by
syndrome protein exonuclease activity Diffuse Large BCell Lymphoma2010
Real-Time RT-PCR
2. Economic Consequences to Society READING LIST 73 General Content Area: 1. Sonic hedgehog signaling proteins and
of Pandemic H1N1 Influenza 2009 Diagnosis of Melanoma Using Fluorescence ATP-bindig cassette G2 are aberrantly
expressed in diffuse large B-cell
Preliminary Results for Sweden in Situ Hybridization2011
lymphoma
3. Response after One Dose of a 1. Using Fluorescence in situ Hybridization
Monovalent Influenza A (H1N1) 2009 2. Sonic Hedgehog Signaling Pathway
(FISH) as an Ancillary Diagnostic Tool in
Vaccine Preliminary Report is Activated in ALK-Positive Anaplastic
the Diagnosis of Melanocytic Neoplasms
Large Cell Lymphoma
2. Transcriptomic versus Chromosomal
READING LIST 69 General Content Area: 3. Sonic Hedgehog is Produced by Follicular
Prognostic Markers and Clinical Outcome
The Development of c-MET Mutation Dendritic Cells and Protects Germinal
in Uveal Melanoma
Detection Assay2010 Center B Cells from Apoptosis
3. Detection of Copy Number Alterations
1. Somatic Mutations in the Tyrosine Kinase
in Metastatic Melanoma by a DNA READING LIST 79 General Content Area:
Domain of the MET Proto-Oncogene in
Fluorescence In situ Hybridization Probe Whole Genome Amplification & 1986
Papillary Renal Carcinomas
Panel and Array Comparative Genomic Chernobyl, Ukraine Nuclear Power Plant
2. Expression and Mutational Analysis of Hybridization: A Southwest Oncology
MET in Human Solid Cancers Accident2010
Group Study (S9431) 1. BAC-FISH assays delineate complex
3. Role of cMET Expression in Non-Small-Cell
Lung Cancer Patients Treated with EGFR chromosomal rearrangements in a case
Tyrosine Kinase Inhibitors of post-Chernobyl childhood thyroid
READING LIST 74 General Content Area: cancer.
Role of Short Interfering RNA in Gene 2. Whole Genome Amplification
READING LIST 70 General Content Area: Silencing2011 Technologies - Eliminating the Concern
Molecular Cardiology2010 1. Highly Specific Gene Silencing by Over Running Out of DNA Samples Mid
1. Identification of a Pleiotropic Locus on Artificial miRNAs in Rice. Experiment.
Chromosome 7q for a Composite Left 2. Gene silencing by RNAi in mouse Sertoli 3. A break-apart fluorescence in situ
Ventricular Wall Thickness Factor and cells. hybridization assay for detecting
Body Mass Index: The HyperGEN Study 3. Retrovirus-delivered siRNA. RET translocation in papillary thyroid
2. Novel Quantitative Trait Locus is Mapped carcinoma.
to Chromosome 12p11 for Left Ventricular
198
READING LIST 80 General Content Area: of Schizophrenic Patients. Strategies for Rapid Molecular Resource
Expression of miRNA in Diffuse Large B-Cell 3. Reduced Expression of Human Development from an Invasive Aphid
Lymphoma2010 Endogenous Retrovirus (HERV) W GAG Species.
1. Differentiation stage specific expression Protein in the Cingulate Gyrus and 3. Evaluation of next generation
of microRNAs in B lymphocytes and Hippocampus in Schizophrenia, Bipolar sequencing platforms for population
diffuse large B-cell lymphomas. Disorder, and Depression. targeted sequencing studies.
2. Coordinated Expression of MicroRNA-155 READING LIST 85 General Content Area: READING LIST 91 General Content
and Predicted Target Genes in Diffuse Esophageal Cancer2010 Area: Hutchinson-Gilford Progeria
Large B-cell Lymphoma.
1. The Changing Face of Esophageal Syndrome2011
3. Specific expression of miR-17-5p and Cancer 1. Epidermal expression of the truncated
miR-127 in testicular and central nervous
2. Epidermal Growth Factor- prelamin a causing Hutchinson
system diffuse large B-cell lymphoma.
Induced Esophageal Cancer Cell Gilford progeria syndrome: effects on
READING LIST 81 General Content Area: Proliferation Requires Transactivation keratinocytes, hair and skin
The Genetics of Bipolar Disorder2010 of-Adrenoceptors 2. Defective Lamin A-Rb Signaling in
1. Gene-wide analyses of genome- 3. Esophageal cancer risk by type of Hutchinson-Gilford Progeria Syndrome
wide association data sets: evidence alcohol drinking and smoking: a case- and Reversal by Farnesyltransferase
for multiple common risk alleles for control study in Spain Inhibition
schizophrenia and bipolar disorder and 3. Increased expression of the Hutchinson
for overlap in genetic risk Gilford progeria syndrome truncated
p53 Family and Its Role In Cancer2010 lamin a transcript during cell aging.
2. Subcortical Gray Matter Volume
1. Telomere dysfunction suppresses
Abnormalities in Healthy Bipolar READING LIST 92 General Content Area:
spontaneous tumorigenesis in vivo
Offspring: Potential Neuroanatomical Risk
by initiating p53-dependent cellular Severe Combined Immunodeficiency
Marker for Bipolar Disorder?
senescence. Screening and Patient Studies2011
3. Genetic and Environmental Influences on
2. Shaping genetic alterations in human 1. Long-term Outcome after Hematopoietic
Pro-Inflammatory Monocytes in Bipolar
cancer: the p53 mutation paradigm. Stem Cell Transplantation of a Single-
Disorder
3. p53 polymorphisms: cancer implications. center Cohort of 90 Patients with Severe
READING LIST 82 General Content Area: Combined Immunodeficiency.
Role and Detection of Human Endogenous 2. Why Newborn Screening for Severe
Proteins Involved with Chronic Myleloid Combined Immunodeficiency Is Essential:
Retroviruses in Rheumatoid Arthritis2011
Leukemia and Other Myleoprolifertive A Case Report.
1. Increase in Human Endogenous
Disorders2011 3. Development of a Routine Newborn
Retrovirus HERV-K(HML-2) Viral Load in
Active Rheumatoid Arthritis. 1. Gain-of-Function Mutation of JAK2 in Screening Protocol for Severe Combined
Myeloproliferative Disorders. Immunodeficiency.
2. A role for human endogenous
retrovirus-K (HML-2) in rheumatoid 2. Kinase domain mutants of Bcr enhance
Bcr-Abl oncogenic effects. READING LIST 93 General Content
arthritis: investigating mechanisms of
3. Destabilization of Bcr-Abl/Jak2 Network Area: Biological and Physical Hazards
pathogenesis
by a Jak2/Abl Kinase Inhibitor ON044580 Encountered in the Laboratory2011
3. Lack of Detection of Human Retrovirus-5
Overcomes Drug Resistance in Blast Crisis 1. Lab Safety Matters.
Proviral DNA in Synovial Tissue and
Blood Specimens From Individuals With Chronic Myelogenous Leukemia (CML). 2. Virus Transfer from Personal Protective
Rheumatoid Arthritis or Osteoarthritis. Equipment to Healthcare Employees
READING LIST 88 General Content Area: Skin and Clothing. Emerging Infectious
READING LIST 83 General Content Area: DNA Topology2010 Diseases.
Roles of Oncogenes in Breast Cancer2010 1. The why and how of DNA unlinking. 3. Prevalence of Hepatitis C Virus Infection
1. The Nuclear Receptor Coactivator 2. Bacterial DNA topology and infectious Among Health-Care Workers: A 10-Year
Amplified in Breast Cancer-1 Is Required disease. Survey.
for Neu (ErbB2/HER2) Activation, 3. DNA topoisomerase II and its growing
repertoire of biological functions. READING LIST 94 General Content
Signaling, and Mammary Tumorigenesis
in Mice. Area: Rapid whole-genome mutational
READING LIST 89 General Content Area: profiling using nextgeneration sequencing
2. Dysregulated miR-183 inhibits migration in
LPL Waldenstrom Macroglobulinemia2010 technologies2011
breast cancer cells.
1. Spontaneous splenic rupture in 1. Comparison of next generation
3. Current and emerging biomarkers in
Waldenstrom's macroglobulinemia. sequencing technologies for
breast cancer: prognosis and prediction
2. How I Treat Waldenstrom's transcriptome characterization.
Macroglobulinemia. 2. ShortRead: a bioconductor package for
READING LIST 84 General Content Area: 3. International prognostic scoring system input, quality assessment and exploration
Elevated Levels of Human Endogenous for Waldenstrm Macroglobulinemia. of highthroughput sequence data.
Retrovirus-W in Patients With First Episode of READING LIST 90 General Content 3. Next-Generation Sequencing: From Basic
Schizophrenia2010 Area: Next Generation Sequencing Research to Diagnostics.
1. Elevated Levels of Human Endogenous Platforms2010 READING LIST 95 General Content Area:
Retrovirus-W Transcripts in Blood
1. Rapid whole-genome mutational Cell Death2011
Cells From Patients With First Episode
profiling using next-generation 1. Hypoxia induces autophagic cell death
Schizophrenia.
sequencing technologies. in apoptosis-competent cells through a
2. Endogenous Retrovirus Type W GAG and
2. Combining Next-Generation Sequencing mechanism involving BNIP3.
Envelope Protein Antigenemia in Serum
199
2. Truncated forms of BNIP3 act as 3. Evidence for Three Loci Modifying Age- neuronal trigger for inflammation and
dominant negatives inhibiting hypoxia- at-Onset of Alzheimers Disease in Early- Alzheimers pathology.
induced cell death. Onset PSEN2 Families. 3. The inflammasome: a caspase-1-
3. Hypoxia-Induced Autophagy Is activation platform that regulates
Mediated through Hypoxia-Inducible immune responses and disease
Multiplex PCR and Emerging Technologies
Factor Induction of BNIP3 and BNIP3L via pathogenesis.
Their BH3 Domains. for the Detection of Respiratory
Pathogens2011 READING LIST 106 General Content Area:
READING LIST 96 General Content Area: 1. A multiplex one-step real-time RT-PCR DNA Barcoding2011
Genetic Associations of Cerebral Palsy assay for influenza surveillance. 1. Commercial Teas Highlight Plant DNA
2011 2. Taking New Tack, PrimeraDx Offers Barcode Identification Successes and
1. Mannose-binding lectin haplotypes may MDx Tech as Open Platform for Test Obstacles.
be associated with cerebral palsy only Developers. 2. Mutational Patterns and DNA Barcode
after perinatal viral exposure. 3. Comparison of Automated Microarray for Diagnosing Chikungunya Virus.
2. Methylenetetrahydrofolate Reductase Detection with Real-Time PCR Assays 3. The Barcode of Life Data Portal: Bridging
Gene Polymorphisms and Cerebral Palsy for Detection of Respiratory Viruses in the Biodiversity Informatics Divide for
in Chinese Infants. Specimens Obtained from Children. DNA Barcoding.
3. Apolipoprotein E genotype and cerebral
READING LIST 102 General Content Area: READING LIST 107 General Content Area:
palsy.
Single Nucleotide Polymorphism (SNP) HERV-K and Its Correlation With Melanoma
READING LIST 97 General Content Area: Array Analysis2011 Cells2011
Treatments for HIV/AIDs2011 1. A fast and accurate method to detect 1. Expression of human endogenous
1. Early Antiretroviral Therapy Reduces allelic genomic imbalances underlying retrovirus K in melanomas and
AIDS Progression/Death in Individuals mosaic rearrangements using SNP array melanoma cell lines Cancer.
with Acute Opportunistic Infections: A data. 2. Expression of HERV-K correlates with
Multicenter Randomized Strategy Trial. 2. SAQC: SNP array quality control. status of MEK-ERK and p16INK4A-CDK4
2. Asia can afford universal access for aids 3. Calibrating the performance of SNP pathways in melanoma cells cancer.
prevention and treatment. arrays for whole-genome association 3. An endogenous retrovirus derived from
3. Trends in reported aids defining illnesses studies. human melanoma cells.
(adis) among participants in a universal
antiretroviral therapy program: an READING LIST 103 General Content READING LIST 108 General Content Area:
observational study. Area: Research of BRAF Gene Related to Refractory Myeloma2011
Cancer2011 1. Pomalidomide plus low-dose
READING LIST 98 General Content Area: 1. Kinase-Dead BRAF and Oncogenic RAS dexamethasone in myeloma refractory
Myosin Light Chain Kinase (MYLK) Gene Cooperate to Drive Tumor Progression to both bortezomib and lenalidomide:
Mutation Affect in Smooth Muscle Cells through CRAF. comparison of 2 dosing strategies in
2012 2. Distinct patterns of DNA copy number dual-refractory disease.
1. Myosin light chain kinase is central to alterations associate with BRAF mutations 2. Relapse/Refractory Myeloma Patient:
smooth muscle contraction and required in melanomas and melanoma derived Potential Treatment Guidelines.
for gastrointestinal motility in mice. cell lines. 3. Emerging role of carfilzomib in treatment
2. Mutation in myosin light chain kinase 3. Pharmacodynamic Characterization of relapsed and refractory lymphoid
cause familial aortic dissections. of the Efficacy Signals Due to Selective neoplasms and multiple myeloma.
3. Chemical genetics of zipper-interacting BRAF Inhibition with PLX4032 in Malignant
protein kinase reveal myosin light Melanoma.
Short Tandem Repeat (STR) Technology in
chain as a bona fide substrate in
READING LIST 104 General Content Forensic Community2011
permeabilized arterial smooth muscle.
Area: Microarray Single Nucleotide 1. An integrated microdevice for high-
READING LIST 99 General Content Polymorphism (SNP) Troubleshooting2011 performance short tandem repeat
Area: Chromosome 6 and Its Associated 1. Model-based clustering of array CGH genotyping.
Diseases2011 data. 2. A comparison of the effects of PCR
1. Novel Cleft Susceptibility Genes in 2. Application of a target array inhibition in quantitative PCR and
Chromosome 6q. comparative genomic hybridization to forensic STR analysis.
2. A susceptibility locus on chromosome prenatal diagnosis. 3. Generating STR profile from "Touch DNA".
6q greatly increases risk lung cancer risk 3. A model-based circular binary
among light and never smokers. segmentation algorithm for the analysis
Methods of Screening and Evaluation of
3. The identification of chromosomal of array CGH data.
translocation, t(4;6)(q22;q15), in prostate
Hepatitis C Virus2011
cancer. 1. Hepatitis c virus: prevention, screening,
and interpretation of assays.
READING LIST 100 General Content READING LIST 105 General Content Area: 2. Serial follow-up of repeat voluntary
Area: Early onset of autosomal dominant Inflammasome Activation by Proteins2011 blood donors reactive for anti-hcv elisa.
Alzheimer disease2011 1. Activation of the NLRP3 inflammasome 3. Comparison of fibrotest-actitest with
1. Genetics of Alzheimer Disease. by islet amyloid polypeptide provides a histopathology in demonstrating fibrosis
2. New mutation in the PSEN1 (E120G) gene mechanism for enhanced IL-1 2 in type 2 and necroinflammatory activity in
associated with early onset Alzheimers diabetes. chronic hepatitis b and c.
disease. 2. ER stress in Alzheimers disease: A novel
200
READING LIST 111 General Content Area: high resolution array comparative READING LIST 116 General Content Area:
Pharmacogenomics2011 genomic hybridization. Autism - 2015
1. Pharmacogenomic testing: Relevance 3. Microarray-based comparative genomic 1. Intellectual disability and autism
in medical practice: Why drugs work in hybridization. spectrum disorders: Causal genes and
some patients but not in others. molecular mechanisms.
2. Clinical assessment incorporating a 2. Aberrant tryptophan metabolism: the
mFISH2012
personal genome. unifying biochemical basis for autism
1. Human interphase chromosomes:
3. Genomics and drug response. spectrum disorders?
a review of available molecular
3. Decreased tryptophan metabolism in
READING LIST 112 General Content Area: cytogenetic technologies.
patients with autism spectrum disorders
Adrenoleukodystrophy2011 2. Establishment of a new human
1. Novel exon nucleotide deletion causes pleomorphic malignant fibrous
adrenoleukodystrophy in a Brazilian histiocytoma cell line, FU-MFH-2:
family. molecular cytogenetic characterization
2. X-linked adrenoleukodystrophy: ABCD1 by multicolor fluorescence in situ
de novo mutations and mosaicism. hybridization and comparative genomic
hybridization.
3. Identification of novel SNPs of
ABCD1, ABCD2, ABCD3, and ABCD4 3. CD5-negative Blastoid Variant Mantle
genes in patients with Xlinked Cell Lymphoma with Complex CCND1/
adrenoleukodystrophy (ALD) based IGH and MYC Aberrations.
on comprehensive resequencing and READING LIST 115 General Content Area:
association studies with ALD phenotypes. Cystic Fibrosis - 2014
READING LIST 113 General Content Area: 1. Rapid Detection of the ACMG/ACOG-
Quality Assurance and Quality Control Recommended 23 CFTR Disease-
of Microarray Comparative Genomic Causing Mutations Using Ion Torrent
Hybridization2011 Semiconductor Sequencing
1. Customized oligonucleotide array-based 2. Long-Term Evaluation of Genetic
comparative genomic hybridization as Counseling Following False-Positive
a clinical assay for genomic profiling of Newborn Screen for Cystic Fibrosis
chronic lymphocytic leukemia. 3. Rapid Transport of Muco-Inert
2. Comparison of familial and sporadic Nanoparticles in Cystic Fibrosis Sputum
chronic lymphocytic leukaemia using Treated with N-acetyl cysteine
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201
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202
Association Business
Message from the President

Greetings all you Genetic Technology Professionals!
If you have gotten this far without reading Mark Terrys editorial, please go back and read it now. It is a brilliant
assessment of why AGT finds itself in a financial and identity conundrum. Its definitely worth a read. The only
additional benefit of AGT membership that I would add to his list is the establishment of a wide-reaching network
that will bring an abundance of technical expertise and joy to both your professional life and your personal life. Every
time I attended an AGT conference (every year since 1982) I came away energized and excited. Not only did I have the
opportunity to find answers to my technical questions, but I also was able to assist others with their difficulties, thus
validating my own techniques. Its very nice to know that your expertise is appreciated!
Perhaps the greatest motivation for me to attend as many AGT conferences as I could was to spend time with my
growing network of colleagues who ultimately became lifelong friends. No, friends is not an adequate assessment,
they are family. I urge you to start your new family by attending the 2017 AGT conference in Saint Louis, Missouri.
As AGT president I have the opportunity to listen in on the conference planning updates. Let me tell you, I am very
excited about next years program. The meeting directors, Jennifer Sanmann and Tina Mendiola, have done a stellar
job, with changes to the meeting structure, more platform presentations, and more opportunities for face-to-face
interaction.
Molecular and cytogenetics topics are just about equal on the program, so please urge your colleagues in the molecular
lab to check out the program. Genetics trivia will be back, so you better re-read your genetics textbooks! I dont want
to give too much away, but the keynote speaker is awesome!!! Just a hint, do you know why elephants dont get cancer?
The Gordon Dewald speaker, a colleague of Gordys, is also great, and very entertaining! So, if I have piqued your
interest, please remember to renew your membership so you can get the conference discount.
If any of your colleagues are not members, please urge them to join and go to the conference with you! No funding?
Whose career is it? Is it yours or your employers?? Take charge of your professional lifeI guarantee that you wont
regret it! Why not take advantage of one of the awards that AGT and FGT sponsor? They come with cash, and what
better way to spend it than to attend an AGT conference? Why not look into it? Will I meet you in St. Louis, Louie??
Pat Dowling, AGT President
203
AGT, The Organization for Cytogenetic & Molecular Professionals

AGT, originally founded in 1975 as the Association of Cytogenetic Technologists, serves to:
promote the scientific and professional development of all areas of genetics;
foster the exchange of information between those interested in genetics;
encourage cooperation between those persons actively or formerly engaged in genetics; and
stimulate interest in genetics as a career.
AGT has approximately 1,000 members. Membership is open to all who are employed or interested in genetics. All regular members are
entitled to hold office, vote in elections, attend all AGT meetings, and receive The Journal of the Association of Genetic Technologists
and access the AGT International Online Membership Directory.
Board of Directors Annual Meeting Director Representative to NAACLS Other Contacts

Jennifer N. Sanmann, PhD, FACMG Term: 9/12 9/16
Liaison to ASCLS Governmental
Officers UNMC Peter C. Hu, PhD, MS, MLS(ASCP)CM,
Affairs Committee
Human Genetics Laboratory CGCM, MBCM
President Kathryn Sudduth, BA,
985440 NE Med. Center University of Texas
Patricia K. Dowling, PhD CG(ASCP)CM, DLMCM
Omaha, NE 68198-5440 M.D. Anderson Cancer Center
Pathline Labs 2713 Brookmere Road
402-559-3145 School of Health Sciences
535 E. Crescent Ave. Charlottesville, VA 22901
jsanmann@unmc.edu 1515 Holcomb Blvd., Box 2
Ramsey, NJ 07446 434-973-0690
Houston, TX 77030
PDowling@pathlinelabs.com kas3m2@embarqmail.com
Annual Meeting Co-Director 713-563-3095
Christina Mendiola, BS, CG(ASCP)CM pchu@mdanderson.org
President-Elect FGT Board of Trustees President
University of Texas Health Science
Jason A. Yuhas, BS, CG(ASCP)CM Robin A. Vandergon,
Center San Antonio Representative to Foundation for
Mayo Clinic CG(ASCP)CM, DLMCM
7703 Floyd Curl Dr. Genetic Technology
Division of Laboratory Genetics 8767 E. Los Altos Ave.
San Antonio, TX 78229 Term: 7/10 6/16
Cytogenetics Lab Clovis, CA 93619
210-567-4050 Patricia LeMay, MT(ASCP),
200 First St. SW 559-392-0512
mendiolac@uthscsa.edu CG(ASCP)CM
Rochester, MN 55905 rrink@quixnet.net
Monmouth Medical Center
507-538-7634
Department of Pathology
yuhas.jason@mayo.edu Council of 300 Second Ave. Executive Office
Secretary-Treasurer Representatives Long Branch, NJ 07740
732-923-7369 AGT
Denise Juroske Short, MSFS, Representative to CCCLW plemay1945@aol.com 4400 College Blvd, Suite 220
MB(ASCP)CM Term: 7/14 6/20
219 Timberland Trail Lane. Overland Park, KS 66211
Hilary E. Blair, BS, MS, CG(ASCP)CM Representative to CAP/ACMG
Lake City, TN 37769 Mayo Clinic Term: 1/16 12/21 913-222-8665
dmj4565@gmail.com 200 First St. SW Jun Gu, MD, PhD, CG(ASCP)CM 913-222-8606 FAX
Rochester, MN 55905 University of Texas MD Anderson
Public Relations Director agt-info@kellencompany.com
507-255-4385 Cancer Center
Ephrem Chin MBA, MB(ASCP)CM, QLC www.AGT-info.org
blair.hilary@mayo.edu School of Health Professions
Oxford Gene Technology
Cytogenetic Technology Program
520 White Plains Road, Suite 500 Representatives to BOC 1515 Holcombe Boulevard, Unit 2
Tarrytown, NY 10591 Term: 10/12 9/18 Staff Contacts:
Houston, TX 77030
404-579-9995 Helen Bixenman, MBA/HCM, CHC, (713) 563-3094 Monica Evans-Lombe, Executive
nzelfman@gmail.com CG(ASCP)CM, DLMCM, QLC jungu@mdanderson.org Director
San Diego Blood Bank 913-222-8636
Education Director 3636 Gateway Ctr. Ave., Ste. 100 mevanslombe@kellencompany.com
Sally J. Kochmar, MS, CG(ASCP)CM San Diego, CA 92102 Publications
Magee-Womens Hospital 619-400-8254
Pittsburgh Cytogenetics Lab AGT Journal Editor Christie Ross, Education Program
hbixenman@sandiegobloodbank.org Mark D. Terry Coordinator
300 Halket St., Room 1233
Pittsburgh, PA 15213 1264 Keble Lane 913-222-8626
Term: 10/11 9/16 Oxford, MI 48371 cbross@kellencompany.com
412-641-4882 Amy R. Groszbach, MEd, MLT(ASCP)CM,
skochmar@upmc.edu 248-628-3025
MBCM markterry@charter.net Diane Northup, Administrative
Mayo Clinic Assistant
Molecular Genetics Laboratory 913-222-8630
Hilton 920 dnorthup@kellencompany.com
200 First St. SW
Rochester, MN 55905
507-284-1229
groszbach.amy@mayo.edu
Visit AGTs Website at www.AGT-info.org
204
AGT 2017 Call for Abstracts ABSTRACT DUE DATE: Friday, February 3, 2017
Dialogue and the sharing of ideas is critical to the success of our field, so we want to hear about the work being done
in your laboratories. The 42nd Annual Meeting Program Committee invites all interested persons to submit abstracts
for the AGT 42nd Annual Meeting, June 15-17, 2017, in St. Louis, Missouri. New
New in 2017: Meeting
A significant increase in the number of submissions selected for a platform presentation
Multiple platform presentation sessions throughout the scientific meeting
Format!
Focused platform presentation sessions, such as cytogenetics and molecular genetics
Expanded areas of interest, to include topics such as clinical genetics, genetic counseling and regulatory affairs
Abstracts will be printed in the Final Program Book and in the 2017 Third Quarter issue of the Journal of the Association
of Genetic Technologists if they are presented at the meeting.
All abstracts must contain:
a description of the study design,
a statement of results (including data), and
an informative conclusion.
Abstracts will be assigned to platform or poster presentations by a Review Committee. The Committee will consider the authors
preference and the time constraints of the meeting.
Poster Presentations Submission Requirements

Poster presentations are scheduled for Friday, June 16 and Abstracts must be submitted electronically through AGTs
Saturday, June 17. online submission site. If you are submitting more than one
Please Note: First authors on posters must be AGT members abstract, you must submit each abstract separately. You may
at the time of submission in order to be eligible to win the Best submit your abstract here: https://www.surveymonkey.com/r/
PosterAward. AGT2017Abstracts.
It is important that you follow all instructions carefully.
Platform Presentations Abstracts submitted incorrectly will not be considered
forpresentation.
Platform presentations are limited to 15 minutes each: twelve
minutes for the presentation and three minutes for questions/ ABSTRACTS MUST BE RECEIVED BY FRIDAY,
discussion. If AGT accepts your abstract for platform presentation, February 3, 2017.
you will receive notification by March 31, 2017. Abstracts not
accepted for platform presentation may be accepted for poster
presentation.
205
AGT 2017 Call for Student Abstracts

& Student Research Award Entries
ABSTRACT DUE DATE: Friday, March 3, 2017
Student members enrolled in an accredited Cytogenetics or Diagnostic Molecular Science program are invited to submit student abstracts
for presentation and as an entry for the 2017 Student Research Award. The award will be presented to the recipient at the 2017 Annual
Meeting of the Association of Genetic Technologists in St. Louis, Missouri, June 15-17, 2017. The entries are submitted to the AGT
Executive Office, which then forwards the abstracts to a panel of Association members. The winner is selected by this panel based on a
scored evaluation of the submitted abstracts. All other participants will be invited to present a poster at the Annual Meeting.
Eligibility Criteria
Individuals/students eligible to submit abstracts for the award are: A purpose for the experiment or investigation where the
Those enrolled in a NAACLS Serious Applicant Status scientific merit or contribution is stated.
or Accredited undergraduate or certificate program in A hypothesis, which indicates scientific expectations of the
Cytogenetics or Diagnostic Molecular Science (U.S. Programs). investigation and should be appropriate for the purpose.
Those enrolled in a Canadian Society of Laboratory Scientific methods which are appropriate to the investigation,
Technology Approved undergraduate or certificate program concise and organized.
in Cytogenetics or Molecular Biology (Canadian programs). Data resulting from the investigation/experiment should be
Those attending formal undergraduate or certificate concise, specific and organized.
programs outside of the United States and Canada if the The interpretation should be consistent with the data.
program is recognized at the national level of the country in The conclusions should be consistent with the data and
which the program is located. interpretation. They may be intertwined with the interpretation,
Applicants MUST be enrolled in the program between March1, should support or refute the hypothesis, and should include the
2016 and March 4, 2017. need for further investigation or suggest how other variables
may influence the results.
Individuals/students graduated prior to March 1, 2016 are not
eligible. References should be used when appropriate. The institution
name or any other identifying information should not be
Applicants must be members of the Association of Genetic included in the abstract.
Technologists at the time of application to be eligible to
win the Vicki Hopwood Student Research Award, but non- Submission Requirements
members may submit an abstract in the student category.
Abstracts must be submitted electronically at: https://www.
Information regarding AGT membership is available from your surveymonkey.com/r/AGT2017StudentAbstracts. If you are
program director or the AGT Executive Office. submitting more than one abstract, you must submit each abstract
The applicant will be required to be the first author on the separately.
abstract. It is important that you follow all instructions within the online
The applicant and a program official will be required to validate submission site carefully. Abstracts submitted incorrectly will not
that: the research was conducted during enrollment and be considered for presentation.
completed prior to graduation from the program, the applicant
was the primary investigator, and the abstract submitted is the Student Research Award
work of the applicant. The recipient will be notified by April 28, 2017.
Applications may be submitted throughout the year in order to The winner will receive complimentary 2017 Annual Meeting
be considered for the 2017 Student Research Award. All entries registration and expenses to travel to the meeting.
received after March 3, 2017 will be considered for the 2018 The recipient will be invited to present his/her research in a
Student Research Award. 10-minute platform presentation.
All other submissions will be considered for poster presentation.
206
2017 AGT Outstanding Achievement
Award Nomination
Nominations are open for the 2016 AGT Outstanding Achievement Award. We are looking for those who are committed to
furthering the field of genetics as demonstrated by their work, attitude and AGT activities. If you have a colleague who
performs above and beyond the call of duty, nominate him or her for the AGT Outstanding Achievement Award today. All
nominees must be AGT members, however they cannot be current AGT Board members or on its Council of
Representatives.
NOMINATIONS MUST BE POSTMARKED NO LATER THAN FEBRUARY 3, 2017.

Requirements
1. The nominee works as or has worked as a genetic technologist (this does not include post-
Return to:
doctoral fellowships). AGT Executive Office
2. Current membership in AGT 4400 College Boulevard, Suite 220
3. Current certification in cytogenetics, molecular genetics or biochemical genetics Overland Park, KS 66211
4. A letter from the nominee stating accomplishments and contributions to the field of genetic Fax: 913-222-8606
technology with reference to the award criteria. The letter should state specifically how the AGT-info@kellencompa ny.com
nominees expertise and contributions have furthered genetic technology.
5. Two letters of support from individuals familiar with the nominees accomplishments
6. Copies of relevant publications authored by the candidate (maximum of five)
7. A current rsum
Criteria
1. Employment in the field of genetic technology (include length of time and positions held)
2. Consideration of total length of time as AGT member
3. AGT service (past service on the AGT Board of Directors, Council of Representatives, committees and task forces, editorships, etc.).
4. Presentations at the AGT annual meeting (featured speaker, workshop or breakout session presenter, platform presenter)
4. Other educational and continuing education activities (teaches genetic technology; gives seminars, workshops or lectures; other
genetic technology-related educational activities)
5. Publications relevant to genetic technology, education and/or management (list all publications, including journal articles, books,
posters, abstracts, etc.)
6. Development and/or implementation of new methods or procedures
7. Other contributions to the fields of genetic technology
Nominees Name:
Company/Institution:
Address:
City, State, Zip:
Phone: Email:
I am nominating this person for the AGT Outstanding Achievement Award because:
Nominated by (Name):
Address:
City, State Zip
Phone: Email:
AGT accepts classified job advertising for:
Posting on Jobline page of the web site; Online postings are also
included in the monthly e-news blast to members.
E-blast to AGT members
For publication in JAGT (Journal of the Association of Genetic
Technologists)
For publication in AGT e-news only - monthly blast to members
Advertisements submitted for posting on the website or as an e-blast are

generally completed within approximately 48 hours of acknowledged
receipt. If logos are to be used on the posting, they must be submitted in
GIF. or JPG. format. Logos and text must be submitted via e-mail.
Advertisements submitted for publication in the Journal of the Association

of Genetic Technologists (JAGT) must be submitted by the deadline date
for the requested issue and adhere to the mechanical requirements
outlined on the insertion order form.
To place your order for advertising, please complete the appropriate form
and submit to the AGT Executive Office via email
agt-info@kellencompany.com.
Forms can be found on the AGT website here:

http://www.agt-info.org/Pages/pricing.aspx
The Foundation for Genetic Technology (FGT) was organized exclusively for scientific and educational purposes. It is a non-profit
organization whose funds and assets are used to promote education in genetic technology and provide professional opportunities for
training through grants, scholarships and awards.
As always, behind the scenes, the dedicated members of the Foundation work throughout the year to strive to continue the mission of
the FGT. Along with support from AGT, the Foundation is able to fund the scholarships and grants that were presented at the Annual
AGT Meeting. None of this would have been possible without the help of the donors, vendor sponsorships and the members-at-large of
AGT. Once again, the Foundation is fiscally solvent this year, which is a tribute to our many hard-working and dedicated members.
A major source of income for FGT comes from the sale of the study guides for the Cytogenetic and Molecular exams. These are available
year-round and can be purchased by visiting the AGT website, and accessing FGT from the Resources tab. Another financial resource
has been regional meetings sponsored by FGT. The West Coast meeting is usually in March, and the East Coast meeting is scheduled in
September. Please refer to the website for further meeting information.
The Silent Auction at the AGT Annual Meeting was a tremendous success, with over $600 of donated items. This event has proven to
be a great way for the FGT to raise money and also promote interaction among the attendees. Thank you to everyone who participated
those of you who donated items, the winners of our auction and those who stopped by the FGT booth to inquire about us. Your input is
important, and your interest is vital to keep FGT opportunities available. For more information, email Pat LeMay at plemay1945@aol.
com.
DO YOU KNOW SOMEONE ?

Having just come off a very successful AGT Annual Meeting in Orange
County, California, it is time to look ahead to 2017.
Along with AGT and our corporate sponsors, the Foundation for Genetic
Technology has many scholarships and awards that we present at the AGT
Annual Meeting every year. A complete list, along with requirements, application
forms and submission deadlines is listed in the FGT section on the AGT
website. There is a wide range of awards available and something for every AGT
member to considerfrom the newly certified technologist to the career-oriented
professional and the seasoned veteran technologist. We encourage each AGT
member to consider nominating someone for these awards. It is a wonderful way
to acknowledge the accomplishments and the dedication of those individuals
who we know work so hard for the field of genetics. There are many qualified
candidates, many of whom work in small laboratories that may feel out of the
loop, but each application is reviewed by a committee, and is not a popular vote.
You owe it to yourselves, as AGT members, to recognize outstanding members
of our professional organization. If we fail to promote ourselves, then no one is
going to do it for us. So, if you know an AGT member who demonstrates passion,
knowledge and a commitment to genetics, please check out the various awards
that our organization sponsors.
209
Foundation for Genetic Technology

4400 College Blvd, Suite 220 Overland Park, KS 66211
FGT website: http://www.AGT-info.org/Pages/fgt.aspx
2017 Grants & Awards Deadline: March 31, 2017

For more information, guidelines, criteria and application forms for the grant and awards listed below visit the FGT
website at http://www.agt-info.org/Pages/fgt.aspx.
Outstanding Technologist Grant ($500) Honors an outstanding AGT member technologist who is BOC-certified with
three or more years of work experience in the genetic industry. Sponsored by Leica Microsystems.
Florence Dowling Genome Award ($500) Acknowledges and honors outstanding technologists in cytogenetics and
molecular genetic technology. This award program contributes to the growth of genetic technology as a profession by
recognizing individuals with superior professional commitment. Sponsored by Patricia Dowling.
New Horizons Award ($750) Honors newly certified AGT members who submit an essay about their genetic experience and
desire to attend the AGT Annual Meeting. Sponsored by Rainbow Scientific.
EXCEL Award ($500) AGT members enrolled in a formal university/hospital or laboratory-based program in diagnostic
molecular technology or a NAACLS-accredited certificate or undergraduate cytogenetics or molecular program may be eligible
to compete for free student registration to the AGT 42nd Annual Meeting, as well as one full-day or two half-day workshops.
Sponsored by Oxford Technology.
Barbara J. Kaplan Scholarship ($1,000) AGT members enrolled in a formal training program, including university/
hospital, laboratory-based or a NAACLS-accredited program for molecular genetics or cytogenetics may be eligible for the
$1,000 scholarship. Program directors may visit the FGT website for more information. Sponsored by FGT.
Joseph Waurin Excellence in Education Award ($500) Honors an outstanding AGT member educator in the genetic
community that is BOC-certified and has a minimum of five years of teaching experience. Sponsored by James Waurin.
Best Poster Award ($300) All AGT members attending the AGT Annual Meeting may vote for the poster that fits the
winning criteria (i.e., interesting and informative topic, well-organized, clear and concise data, best illustrations, clinical/
laboratory correlation and cutting-edge technology) submitted by an AGT member by the abstract deadline. Sponsored by
Irvine Scientific.
Best Platform Presentation Award ($500) All AGT members attending the platform presentations at the AGT Annual
Meeting may vote for the presentation that best fits the winning criteria (i.e., presentation must be given by a technologist, be an
interesting and informative topic, have clinical/laboratory correlation and present cutting-edge technology). An AGT member
must be among the authors of the abstract submitted by the abstract deadline. Sponsored by FGT.
Best Exhibitor Booth Award

Honors exhibitors at the AGT Annual Meeting. AGT members will vote by ballot on the following criteria:
1. Best interaction (quality of interaction) with AGT membership, including availability to meeting participants and
answering questions with detail.
2. Most valuable technical information or product information, including presentation of literature available.
3. Best overall booth design, including appearance of exhibit and visual impact of the display.
4. Most innovative gifts/raffles for attendees.
5. Creativity.
6. Only exhibitors listed in the final program will be eligible.
Please refer to the website listed above for the details and the
application forms for all of these awards, grants and scholarships.
210
Foundation for Genetic Technology

2015-2016 Board of Trustees
Voting Members Treasurer, Chair Capital Public Member, Corporate

ManagementCommittee Compliance Officer
President Tara Ellingham Bob Gasparini
Robin Vandergon MUSC-Childrens Hospital Consultant
NeoGenomics Cytogenetics Lab 12701 Commonwealth Dr.
30 E River Park Place West, Ste. 400 165 Ashley Ave., Suite 309 Ft. Myers, FL 33913
Fresno, CA 93720 Charleston, SC 29425 239-357-4237
559-392-0512 cell 843-792-6873 bgasparini@neogenomics.com
559-433-6601 Fax ellingha@musc.edu
rvandergon@neogenomics.com tellingham@hotmail.com
Non Voting Members
Vice President, AGT Representative, AGT Representative, Awards &
Grants Committee Chair Scholarship Chair Advisor, AGT President
Patricia LeMay Denise Juroske Short Patricia K. Dowling
301-22 Spring Street 219 Timberland Trail Ln. Pathline Labs
Red Bank, NJ 07701 Lake City, TN 37769 535 E. Crescent Ave.
plemay1945@aol.com 832-878-6119 Ramsey, NJ 07446
dmj4565@gmail.com PDowling@pathlinelabs.com
Secretary
DeNesha Criswell Public Member, Chair FGT Fundraising Ex-Officio, AGT Education Director
NeoGenomics Jeff Sanford Sally J. Kochmar
618 Grassmere Park Drive, Unit 20 MetaSystems Group, Inc. Magee-Womens Hospital
Nashville, TN 37211 70 Bridge St., Ste. 100 Pittsburgh Cytogenetics Lab
Newton, MA 02458 300 Halket St., Room 1233
617-924-9950 Pittsburgh, PA 15213
jsanford@metasystems.org 412-641-4882
skochmar@upmc.edu
211
AGT 42nd Annual Meeting
June 15-17, 2017

St. Louis Union Station Hotel
St. Louis, MO
212
WE HOPE TO SEE YOU
IN ST. LOUIS!
For the latest information on educational

programing, registraiton and hotel for the
AGT 42nd Annual Meeting

visit our website at www.AGT-info.org!
Register Online - Registration will open in early January 2017

Book your hotel room by May 22
You will not want to miss out on this year's

outstanding scientific program, so register early.
Enter the code PC1 when you register to be entered
into a prize drawing!
Connect with us!
213
Explore our degree program in
Cytogenetic Technology including on
campus part-time enrollment, on-
campus full-time enrollment, and hybrid
online enrollment
Explore our Internet-Based Review
Course in Clinical Cytogenetics with
ongoing enrollment
Explore our Annual Comprehensive
Review Course in Clinical Cytogenetics
to prepare for ASCP-BOC (CG) exam
For more information contact

Jun Gu, M.D., Ph.D., CG (ASCP)
Program Director/Associate Professor
jungu@mdanderson.org
1-800-551-9503
PRODUCT ORDER FORM
Non-
Item Description Member
Member
Quantity Total $
The AGT Cytogenetics Laboratory Manual, 3rd Edition

[Please note: Note: The 4th Edition of AGT's Cytogenetics Laboratory
Manual is currently in production.
Click here to preorder publication now through the publisher (available

December 2016)]
The Cytogenetics Symposia, 2nd Edition $65 $80
The AGT Molecular Biology Techniques Review Guide

Select method of delivery:
$40 $55
Dropbox (no shipping cost)
Secure Document Hyperlink (no shipping cost)
The Dynamics of Chromosome Spreading Video $35 $50

CD featuring Jack Spurbeck
Shipping/Handling ($10 per item)* $

TOTAL $
*INTERNATIONAL ORDERS Shipping charged directly to recipient. Please provide a Federal
Express account number or the credit card number below will be charged separately for shipping.
Method of Payment:
Name Check Visa MasterCard AMEX Discover
Shipping Address Account Number
Expiration Date
City,State Zip Name on Account
Phone No. Signature on Account
Email
AGT Executive Office, 4400 College Boulevard, Suite 220, Overland Park, KS 66211 Please allow
Fax (913) 222-8606 Email: agt-info@kellencompany.com Website: www.agt-info.org 2-4 weeks
for shipping.
Meeting/Workshop Announcements
2017-2018 Scientific Meetings Schedule

If you know of a relevant meeting, please send information to Ephrem Chin, Public Relations Director at nzelfman@gmail.com.
We are always looking to improve AGTs annual meeting. If you attend a meeting and see something you think would enhance
our meeting, please email your ideas to Jennifer Sanmann, Annual Meeting Director at jsanmann@unmc.edu.
Meeting Location Dates Website
2017
European Cancer Organization ECO2017 European Amsterdam, January 27-30, www.ecco-org.eu

Cancer Congress Netherlands 2017
HUGO HGM 2017 Barcelona, February 2017 www.hugo-international.org
Spain
Conference on Retrovirus & Opportunistic Infections Seattle, WA February 12-16, www.retroconference.org
(CROI) 2017
American Associationfor the Advancement of Boston, MA February 16-20, www.aaas.org
Science(AAAS) Annual Meeting 2017
American Academy of Allergy, Asthma, & Atlanta, GA March 3-6, 2017 www.aaaai.org
Immunology (AAAAI)
United States & Canadian Academy of Pathology San Antonio, TX March 4-10, 2017 www.uscap.org
(USCAP) Annual Meeting
Society of Maternal/Fetal Medicine (SMFM) Barcelona, March 8-12, 2017 www.smfm.org
9thInternational Symposium on Diabetes, Spain
Hypertension, Metabolic Syndrome and Pregnancy
Association for Gerontology in Higher Education Miami, FL March 9-12, 2017 www.aghe.org
(AGHE) Annual Meeting and Educational Leadership
Conference
Society for Reproductive Investigation (SRI) Orlando, FL March 15-18, 2017 www.sri-online.org
AnnualScientific Meeting
American Collegeof Cardiology (ACC) Scientific Washington, March 17-19, 2017 www.acc.org
Session & Expo DC
American College of Medical Genetics (ACMG) Phoenix, AZ March 21-25, 2017 www.acmg.net
AnnualClinical Genetics Meeting
Clinical Laboratory ManagementAssociation (CLMA) Nashville, TN March 26-29, 2017 www.clma.org
KnowledgeLab
American Collegeof Physicians (ACP) Internal San Diego, CA March 30 www.acponline.org
Medicine Meeting April 1, 2017
The Endocrine Societys ENDO Annual Meeting Orlando, FL April 1-4, 2017 www.endocrine.org
American Association for Cancer Research (AACR) Washington, April 1-5, 2017 www.aacr.org
Annual Meeting DC
American Chemical Society (ACS) National Meeting San Francisco, April 2-6, 2017 www.acs.org
& Exposition CA
American Societyfor Biochemistry & Molecular Chicago, IL April 22-26, 2017 www.asbmb.org
Biology (ASBMB) Annual Meeting
AmericanSocietyforInvestigativePathology (ASIP) Chicago, IL April 22-26, 2017 www.asip.org
Annual Meeting at Experimental Biology
American Transplant Congress (ATC) Chicago, IL April 29 www.atcmeeting.org
May 3, 2017
Cambridge Healthtech Institutes 7th Annual Philadelphia, May 2-4, 2017 www.biomarkerworldcongress.
Biomarker World Congress 2011 PA com
American Association of Clinical Endocrinologists Austin, TX May 3-26, 2017 www.aace.com
(AACE) Annual Meeting and Clinical Congress
5th Quadrennial Meeting of the World Federation of Zurich, May 4-7, 2017 https://www.eano.eu/wfnos-
Neuro-Oncology Societies (WFNOS) Switzerland 2017-meeting/welcome/
216
Meeting/Workshop Announcements
Meeting Location Dates Website
American Gastroenterological Association (AGA) Chicago, IL May 6-9, 2017 www.ddw.org

Digestive Disease Week (DDW) www.gastro.org
Pediatric Academic Society (PAS) and Asian Society San Francisco, May 6-9, 2017 www.pas-meeting.org
for Pediatric Research (ASPR) Joint Meeting CA
Clinical Virology Symposium & Annual Meeting of the Savannah, GA May 7-10, 2017 www.clinicalvirologysymposium.
Pan American Society for Clinical Virology org
American Association of Immunologists (AAI) Washington, May 12-16, 2017 www.aai.org
AnnualMeeting DC
American Urological Association (AUA) Boston, MA May 12-16, 2017 www.aua2017.org
AnnualMeeting
American Association of Bioanalysts(AAB) Annual Houston, TX May 18-20, 2017 www.aab.org
Meeting and Educational Conference/CRB
Symposium
American Geriatrics Society (AGS) Annual San Antonio, TX May 18-20, 2017 www.americangeriatrics.org
ScientificMeeting
International Society for Antiviral Research (ISAR) Atlanta, GA May 21-25, 2017 www.isar-icar.com
Antiviral Conference on Antiviral Research (ICAR)
Bio-IT World (Cambridge Health Tech Institute) Boston, MA May 23-25, 2017 www.healthtech.com
www.bio-itworldexpo.com
American Society of Clinical Oncology(ASCO) Chicago, IL June 2-6, 2017 www.asco.org
Annual Meeting
American Society for Mass Spectrometry (ASMS) Indianapolis, IN June 4-8, 2017 www.asms.org
Annual Conference
Cambridge Healthtech Institute (CHI) World Boston, MA June 13-15, 2017 www.healthtech.com
Preclinical Congress
International Aids Society (IAS) Conference Paris France July 2017 www.iasociety.org
European Society of Human Reproduction & Geneva, July 2-5, 2017 www.eshre.com
Embryology (ESHRE) Annual Meeting Switzerland
American Association for Clinical Chemistry (AACC)s San Diego, CA July 30 www.aacc.org
Annual Meeting August 3, 2017
American Society of Clinical Laboratory San Diego, CA July 30 www.ascls.org
Science(ASCLS) Annual Meeting August 4, 2017
Society for Inherited Metabolic Disorders (SIMD) Rio de Janeiro, September 5-8, www.simd.org
AnnualMeeting Brazil 2017
International Congress of Pediatric Laboratory Durban, October 20-22, www.icplm2017.org
Medicine (ICPLM) SouthAfrica 2017
2018
American Chemical Society (ACS) National Meeting New Orleans, March 18-22, 2018 portal.acs.org
& Exposition LA
American Association for Cancer Research(AACR) Chicago, IL April 14-18, 2018 www.aacr.org
Annual Meeting
International Union of Basic and Clinical Kyoto, Japan July TBD, 2018 www.iuphar.org
Pharmacology (IUPHAR) World Congress of Basic and
Clinical Pharmacology
American Chemical Society (ACS) National Meeting Boston, MA August 19-23, portal.acs.org
& Exposition 2018
American Association of Blood Banks (AABB) Boston, MA October 13-16, www.aabb.org
AnnualMeeting & CTTXPO 2018
American Society of Human Genetics (ASHG) San Diego, CA October 16-20, www.ashg.org
AnnualMeeting 2018
Job placement ads are online at http://www.AGT-info.org

217
Regular Members. Regular membership shall be available
to persons who are professionally interested in the field of
genetics.
Student Members. Student membership shall be available to
persons who are pursuing a full or part-time course of study at
New Membership Application

an educational institution or school and who are interested in
pursuing a career in the field of genetics.
Emeritus Members. Emeritus membership shall be available to
Please check the appropriate membership category. If you are applying for a collabo-
persons who are retired from or inactive in the field of genetics.
rative membership, please indicate the related organization and your member ID number:
Collaborative Members. Collaborative membership shall be
Regular Membership $95 Collaborative $40 available to persons who currently hold membership in any
Student Membership $35 Organization:________________________ other health-related national organization and who have never
been members of ACT/AGT.
$40 Member ID: ________________________
Emeritus Membership
Recruited by: ______________________________________ Member ID: _____________
Name: ________________________________________________________________________________________________________________
Last First MI Certification
Home Address: _______________________________________________________________________________________________________
City, State, Zip: ___________________________________________________________________ Phone:______________________________
Business Name: _______________________________________________________________________________________________________

Business Address: _____________________________________________________________________________________________________
City, State, Zip: ___________________________________________________________________ Phone:______________________________
Fax:______________________________ Preferred Email: ___________________________________________________________________

[NOTE: Submission and acceptance of this membership
The supplied address will be published in the directory unless otherwise specified. application authorizes the AGT Executive Office the right and
Do not provide my address in the online AGT Membership Directory. privilege to email you as a member. AGT does not sell or
distribute in any other manner its member email address list.]
Membership Status: New Member Renewal
Referred By_____________________________________________________________________ Membership # ___________________________
Did you use a different name last year: Yes No

Former Last Name________________________________________ First Name________________________________ MI __________________
Position: (check one) Director Supervisor Technologist Lab Manager

Head (Lead, Core) Technologist Tissue Culture Tech. Education Coordinator Other
Principal area of Genetics: (check one) Biochemical Cytogenetics Molecular Other
Appropriate years experience in Genetics: under 2 2-4 5-7 8-10 11-15 16-20 21-30 over 30
NOTICE: OUR MAILING LIST IS MADE AVAILABLE TO OTHER ORGANIZATIONS AND/OR COMPANIES. IF YOU WISH YOUR NAME
NOT TO APPEAR ON THESE LISTINGS, PLEASE CHECK HERE:
Journal Hard Copy Order: Although The Journal of Genetic Technologists is available online to ALL MEMBERS, only North American members
can elect to receive a hard copy via regular mail for an additional fee of $100. This fee covers four issues. If you are a North American
resident and would like a hard copy of the Journal, please remit the additional fee with your membership application by checking the box and
adding the amount to your total payment. $100
Please note: AGT does not accept purchase orders and does not bill/invoice for services.
Mail application form and appropriate fee for membership in correct U.S currency. Money order
or check in U.S. funds drawn on a U.S. bank only. CHECKS DRAWN ON INTERNATIONAL MAIL APPLICATION AND FEE TO:
BANKS WILL NOT BE ACCEPTED. Make checks payable to Association of Genetic
Technologists. For your convenience, you may pay by credit card. Applications received after Association of
September 15 are applied toward the next membership year. NOTE: Membership expires on Genetic Technologists
December 31 of each year. 4400 College Blvd, Suite 220
_______________________________________________________________
Overland Park, KS 66211
VISA MasterCard Account No. Exp. Date Phone: 913-222-8665
FAX: 913-222-8606
AMEX Discover _______________________________________________________________
Signature
9/16
The Journal of the Association of Genetic Technologists
The Journal of the Association of Genetic Technologists is a peer-reviewed journal, and scientific materials for publication containing original
research will be reviewed by independent referees. Manuscripts that require revision or that contain major editorial changes will be returned to the
senior author of the article. Materials submitted will not be retained following publication nor will photographs, disks, or hard copies of manuscripts
be returned to authors. Rejected manuscripts will not normally be returned, although an effort will be made to return original photographs and prints.
Manuscript content is the responsibility of the author(s). All articles published, including editorials, letters, book reviews, invited articles, Brain Ticklers,
columns, and reviews, represent the opinions of the authors and do not reflect the official policy of AGT or the institution with which the author
is affiliated unless specified by the author. AGT, its members, and the editor of The Journal of the Association of Genetic Technologists make no
warranty and assume no liability with respect to the information contained herein.
Information For Authors

The Journal of the Association of Genetic Technologists is pleased to consider manuscripts that describe experience with cytogenetics, molecular
genetics, or biochemical genetics and the application of these disciplines.
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titles should be italicized. Use the following format for references:
Journal Article
Brothman AR, Zhu XL, Maxell T, Cui J, Derbler DA. Advances in the cytogenetics of prostate cancer. J Assoc Genet Technol. 1999;25(1):1-6.
Book Chapter
Barch MJ and Lawce HJ. The cell and cell division. In: Barch MJ, Knutsen T, Spurbeck JL (eds). The AGT Cytogenetics Laboratory Manual, 3rd ed. Philadelphia:
Lippincott-Raven; 1997:1-18.
Book
Mark HFL. Medical Cytogenetics. New York: Marcel Dekker; 2000.
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ISSN 1523-7834

2016 Jagt 4th QTR

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The Journal

Volume 42Number 4Fourth Quarter 2016

The answer to this

The official journal

Column Editors and Review Board . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 176

A Note from the Editor. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 177

The Journal of the Association of Genetic

The Journal of the Association of Genetic Technologists 42 (4) 2016

The Journal of the Association of Genetic Technologists 42 (3) 2016

The Association of Genetic Technologists

AGT Website: www.AGT-info.org

The Journal of the Association of Genetic Technologists 42 (4) 2016

A New Rhesus Macaque Karyotype Based

Introduction with Wrights stain. Metaphases were imaged using brightfield

The Journal of the Association of Genetic Technologists 42 (3) 2016

A New Rhesus Macaque Karyotype Based on Human-rhesus Synteny

Figure 1. Normal G-banded karyotype of rhesus macaque, 42,XY.

The Journal of the Association of Genetic Technologists 42 (4) 2016

Acute Myeloid Leukemia with inv(16)(p13.1q22)

A 47-year-old man presented with fatigue, persistent flu-like

The Journal of the Association of Genetic Technologists 42 (3) 2016

Ring Chromosome 7: A Rare Structural Abnormality in Acute

Introduction normochromic anemia with oval macrocytes and thrombocytopenia.

The Journal of the Association of Genetic Technologists 42 (4) 2016

Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

RESULTS or partial deletion of chromosome 7 is associated with a poor

Figure 1. The karyotype revealed a ring chromosome 7

The Journal of the Association of Genetic Technologists 42 (3) 2016

Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

Refernce Age, Sex Year FAB type Karyotype

The Journal of the Association of Genetic Technologists 42 (4) 2016

Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

19 Mohamed et al. 69, M 2013 NOS 46,XY,r(7)(p13q21)[13]/46,XY[3]

The Journal of the Association of Genetic Technologists 42 (3) 2016

Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

The Journal of the Association of Genetic Technologists 42 (4) 2016

Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

The Journal of the Association of Genetic Technologists 42 (3) 2016

The Journal of the Association of Genetic Technologists 42 (4) 2016

By Michelle Mah, MLT, MB(ASCP)CM

The Journal of the Association of Genetic Technologists 42 (3) 2016

Claudia Wiersch, B.S.

The Journal of the Association of Genetic Technologists 42 (3) 2016

Claudia Wiersch, B.S.

CW: I think people are becoming more well versed in genetics,

Mark HFL. Medical Cytogenetics. New York: Marcel Dekker;

Hon Fong L. Mark, PhD, MBA, FACMG, Editor of the cytogenetics

The Journal of the Association of Genetic Technologists 42 (4) 2016

Brain Tickler Summary

Fluorescence in situ hybridization (FISH) showed a

FISH with an 11p15.5 probe showed signal on both

Therefore there is a derivative chromosome 4,

Genetic counselling was recommended.

The Journal of the Association of Genetic Technologists 42 (3) 2016

Test Yourself #4, 2016

The following questions are from Fonseka L et al. JAK2 in the

II. Hodgkins lymphoma

4. All of the following are correct, except: I. true

11. Some novel therapies of AML are:

18. What is Dr. Dobins most urgent scientific question that

The Journal of the Association of Genetic Technologists 42 (3) 2016

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