The Schmid-Fraccaro syndrome
Kollárová, A.; Misovicová, N.; Mális, V.
Ceska a Slovenska Oftalmologie Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti 55(6): 362-366
1999
ISSN/ISBN: 1211-9059 PMID: 10677904 Document Number: 507730
The authors describe a female patient with bilateral colobomatous malformations of the uvea in conjunction with anorectal atresia and other symptoms suggesting Schmid-Fraccaro's syndrome called also cat eye syndrome. Using fluorescent hybridization in situ, the authors identified the supernumerous bisatellite marker chromosome derived from chromosome 22 which made it possible to confirm the suspected diagnosis.
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