Cat Eye Syndrome

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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
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References in periodicals archive ?
Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. Genomics 2000;64:277-85.
Characterization of the supernumerary chromosome in cat eye syndrome. Science 1986;232:646-8.