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Journal of Genetic Medicine ; : 43-47, 2017.
Artículo en Inglés | WPRIM | ID: wpr-114913

RESUMEN

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.


Asunto(s)
Animales , Gatos , Femenino , Humanos , Ano Imperforado , Cromosomas Humanos Par 22 , Coloboma , Anomalías Congénitas , Feto , Marcadores Genéticos , Corazón , Iris , Reacción en Cadena de la Polimerasa Multiplex , Diagnóstico Prenatal
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