Authors: A. Kollárová; N. Mišovicová *; Vl. Máliš Authors‘ workplace: Očná klinika Jesseniovej lekárskej fakultnej nemocnice, Martin, vedúci MUDr. V. Máliš, CSc. *Oddelenie lekárskej genetiky, Martinská fakultná nemocnica, Martin, vedúci MUDr. N. Mišovicová, CSc. Published in: Čes. a slov. Oftal., , 1999, No. 6, p. 362-366 Category:
The authors describe a female patient with bilateral colobomatous malformationsof the uvea in conjunction with anorectal atresia and other symptoms suggestingSchmid-Fraccaro’s syndrome called also cat eye syndrome.Using fluorescent hybridization in situ, the authors identified the supernumerousbisatellite marker chromosome derived from chromosome 22 which made itpossible to confirm the suspected diagnosis.
Key words: colobomatous malformations of the uvea, anorectal atresia, fluorescenthybridization in vitro
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