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Cat Eye Syndrome |
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Cat Eye Syndrome An autosomal dominant [MIM 115470] condition characterised by vertical iris coloboma—ergo, ‘cat eye’—microphthalmia, pale optic discs, ocular hypertelorism, downward slanting of palpebral fissures, preauricular fistula, anal atresia, umbilical hernia, mental retardation, cardiac and renal defects Genetics A small extra acrocentric chromosome is typical, possibly from chromosome 14; most have 1+ extra copies of chromosome 22q11 Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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