Pinky Mae Portugal Chromosomal Abnormalities

SCIMATB C38

Down Syndrome (Trisomy 21) is the result of an extra copy of chromosome 21. People with Down syndrome are 47, 21+. Down syndrome affects 1:700 children and alters the child's phenotype either moderately or severely: characteristic facial features, short stature; heart defects; susceptibility to respiratory disease, shorter lifespan; prone to developing early Alzheimer's and leukemia; & often sexually underdeveloped and sterile, usually some degree of mental retardation. Edward Syndrome (also called Trisomy 18) occurs when a person has a third copy of material from chromosome 18 instead of the usual two copies. Some symptoms include clenched hands, feet with a rounded bottom, mental deficiency, underdeveloped fingernails, and an unusual shaped chest. Patau Syndrome (also called Trisomy 13) is a disorder in which an individual has three copies of genetic material from chromosome 13, rather than two. It can occur in three forms: Trisomy 13, which has a third chromosome 13 in all cells; Trisomy 13 mosaicism, which has a third chromosome 13 in some cells; and partial Trisomy, which has the presence of part of an extra chromosome 13 in the cells. Cri-du-chat Syndrome - results from missing a piece of chromosome 5. Symptoms include a high-pitched cry that sounds like a cat, downward slant of the eyes, partial webbing or fusing of fingers or toes, and slow or incomplete development of motor skills. Klinefelter Syndrome occurs when males inherit one or more extra X chromosomes--their genotype is XXY or more rarely XXXY or XY/XXY mosaic. In severe cases, they have relatively high-pitched voices, asexual to feminine body contours as well as breast enlargement, and comparatively little facial and body hair. They are sterile or nearly so, and their testes and prostate gland are small. testosterone. As a result, they produce relatively small amounts of

 Turner Syndrome - occurs when one of the two X chromosomes in females is either missing or incomplete. The most common symptoms are short stature and gonadal dysgenesis, which can cause incomplete sexual development and ovarian failure and infertility. Prader-Willi Syndrome - also known as PWS, is an uncommon genetic disorder (present at birth) in which seven genes (or subsets) on chromosome 15 are deleted or unexpressed. Patients with PWS may have physical, mental and behavioral problems - the main one being an unrelenting feeling of hunger. Angelman Syndrome - is an example of genomic imprinting, where the deletion or inactivitation of genes on the maternally inherited chromosome 15 causes the paternal copy, which may be of normal sequence, to be imprinted and silenced. It is characterized by intellectual and developmental delays, sleep disturbances, seizures, and jerky movements, but also frequent laughter or smiling and usually have a happy demeanor.

SOURCES: http://anthro.palomar.edu/abnormal/abnormal_5.htm http://www.friendshipcircle.org/blog/2012/05/22/13-chromosomal-disorders-youve-neverheard-of/ http://www.biology.iupui.edu/biocourses/N100/2k2humancsomaldisorders.html http://web.udl.es/usuaris/e4650869/docencia/segoncicle/genclin98/recursos_classe_(pdf )/revisionsPDF/chromosyndromes.pdf http://www.medicalnewstoday.com/articles/182287.php

Edward Syndrome

Cri-du-chat Syndrome

Angelman Syndrome Prader-Willi Syndrome