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Cat Eye Syndrome
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Cat eye syndrome
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 appea... Found op http://en.wikipedia.org/wiki/Cat_eye_syndrome
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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 ey... Found op http://www.medterms.com/script/main/art.html?articlekey=12101
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Cat Eye Syndrome
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 depre... Found op http://www.pregnology.com/AZ/C/2
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cat-eye syndrome
cat's eye syndrome an association of coloboma of the iris and anal atresia; there may also be many other anomalies, including preauricular skin tags or fistulas, hypertelorism, congenital heart disease, skeletal abnormalities, and renal malformations. It is associated with partial trisomy 22, i.e., ... Found op http://www.encyclo.co.uk/local/21001
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cat's-eye syndrome
<syndrome> Iris colobomas (resembling the vertical pupils of a cat) and anal atresia, associated with an additional acrocentric chromosome; other malformations and mental retardation may be present. ... Synonym: Schmid-Fraccaro syndrome. ... (05 Mar 2000) ... Found op http://www.mondofacto.com/facts/dictionary?cat's-eye+syndrome
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cat's-eye syndrome
Type: Term Definitions: 1. a chromosomal disorder characterized by iris colobomas (resembling the vertical pupils of a cat), downslanting palpebral fissures, anal atresia, preauricular tags and/or pits, heart and renal malformations, and, occasionally, mild mental retardation; associated with chromo... Found op http://www.medilexicon.com/medicaldictionary.php?t=87787
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