Schmid-Fraccaro Syndrome
Schmidov-Fraccarov syndróm
Autori popisujú pacientku s bilaterálnymi kolobomatóznymi malformáciami uveyv spojitosti s atréziou anorekta a ďalšími príznakmi, svedčiacimi pre prítomnosťSchmidovho-Fraccarovho syndrómu, nazývaného tiež Cat eye syndróm.Fluorescenčnou in situ hybridizáciou bol identifikovaný nadpočetný bisatelitnýmarker chromozóm, pochádzajúci z 22. chromozómu, čo umožnilo predpoklada-nú diagnózu potvrdiť.
Klíčová slova:
kolobomatózne malformácie uvey, atrézia anorekta, fluorescenčnáin situ hybridizácia
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:
Overview
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
Labels
OphthalmologyArticle was published in
Czech and Slovak Ophthalmology
1999 Issue 6
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