Cat Eye Syndrome (aka. CES) is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human Chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The term "Cat Eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of s..
Found on http://en.wikipedia.org/wiki/Cat_eye_syndrome
Cat eye syndrome: A constitutional chromosome abnormality (one that is present at or before birth) with multiple malformations characterized by the combination of a cat-like slit of the iris of the eye (vertical coloboma) and no anal opening (anal atresia). Frequently there are also down slanting eye slits (palpebral fissures), tissue tags or pits
Found on http://www.medterms.com/script/main/art.asp?articlekey=12101
A birth disorder that affects approximately 1 in 74,000 people and is a genetic birth defect in which chromosome #22 is affected. A baby is born with the condition and genetic testing will confirm the diagnosis. Symptoms of the disorder include absence of tissue in the iris, small skin tags or depressions on the ears, anal atresia, urinary defe...
Found on http://www.pregnology.com/AZ/C/2
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