microdeletion:

Chromosome deletions that span at least five megabases (Mb) are usually microsco
pically visible on chromosome banded karyotypes. Microdeletions, or submicroscop
ic deletions, are chromosomal deletions that are too small to be detected by lig
ht microscopy using conventional cytogenetic methods
Microdeletions are typically one to three Mb long and involve several contiguous
genes.
microduplication: the opposite of microdeletion
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for e
xample when having 45 or 47 chromosomes when 46 is expected in a human cell. It
does not include a difference of one or more complete sets of chromosomes, which
is called euploidy.
buffy coat - is the fraction of an anticoagulated blood sample that contains mos
t of the white blood cells and platelets following density gradient centrifugati
on of the blood.
The most important of these variations is a single-base substitution called Sing
le Nucleotide Polymorphism (SNP), pronounced snip (see picture to the right). Ea
ch SNP has a unique rsid number (Reference SNP ID) consisting of letters rs and a foll
owing number, which is assigned in the time-order of SNP's discovery. Not all si
ngle-letter changes in DNA are SNPs. To be classified as a SNP, at least one per
cent of the general population must have that change.
microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging
in length from 25 base pairs) are repeated, typically 550 times.[1] Microsatellit
es occur at thousands of locations in the human genome and are notable for their
high mutation rate and diversity in the population.
Microsatellites and their longer cousins, the minisatellites, together are class
ified as VNTR (variable number of tandem repeats) DNA.
Pleiotropy - one gene influences two or more seemingly unrelated phenotypic trai
ts.
epistasis - the interaction of genes that are not alleles, in particular the sup
pression of the effect of one such gene by another.
e.g. recessive epistasis: albinism is often recessive epistasis: locus2 recessiv
e allele prevents expression of locus1 product [but occasionally albinism is dom
inant epistasis]
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Triple X syndrome, also called trisomy X or 47,XXX
Barr body (named after discoverer Murray Barr)[1] is the inactive X chromosome i
n a female somatic cell,[2] rendered inactive in a process called lyonization
dosage compensation - Across species, different sexes are often characterized by
different types and numbers of sex chromosomes. In order to account for varying
numbers of sex chromosomes, different organisms have acquired unique methods to
equalize gene expression amongst the sexes. Dosage Compensation is a term that

describes the processes by which organisms equalize the expression of genes betw
een members of different biological sexes. Because sex chromosomes contain diffe
rent numbers of genes, different species of organisms have developed different m
echanisms to cope with this inequality. Replicating the actual gene is impossibl
e; thus organisms instead equalize the expression from each gene. For example, i
n humans, females (XX) silence the transcription of one X chromosome of each pai
r, and transcribe all information from the other, expressed X chromosome.