Cat Eye Syndrome Research Paper

Decent Essays
Aneuploidy is an abnormal number of chromosomes. When a cell is missing a chromosome or has an extra copy, genetic information becomes altered and abnormalities occur. An example of a human aneuploidy is Cat Eye Syndrome aka Schmid –Fraccaro Syndrome. Cat eye syndrome is a genetic disorder caused duplicated chromosome material of Chromosome 22. The top half and a small section of the bottom half are present three or four times in the cells of the body rather than two.
Symptoms associated with this syndrome are absence of tissue from the iris from one or both eyes, anal atresia, congenital heart defects, downward slanting openings between the upper/lower eyes, vertical pupils, and defects of the urinary tract or kidneys, short stature,

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