[The Schmid-Fraccaro syndrome].
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.
Kollárová
A
A
Ocná klinika Jesseniovej lekárskej fakultnej nemocnice, Martin.
Misovicová
N
N
Mális
V
V
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D003103:Coloboma; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D013577:Syndrome; D014602:Uvea / Q000002:abnormalities*
D005819:Genetic Markers