Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification.
- Author:
Sang Hee PARK
1
;
Sung Han SHIM
;
Yong Wook JUNG
;
So Hyun SHIM
;
Mi Uk CHIN
;
Ji Eun PARK
;
Sung Mi BAE
;
Sang Woo LYU
;
Dong Hyun CHA
Author Information
- Publication Type:Case Report
- Keywords: Schmid-Fraccaro syndrome; Prenatal diagnosis of cat eye syndrome; Chromosome 22 partial tetrasomy; Multiplex polymerase chain reaction; Chromosome marker
- MeSH: Animals; Anus, Imperforate; Cats*; Chromosomes, Human, Pair 22*; Coloboma; Congenital Abnormalities; Female; Fetus; Genetic Markers; Heart; Humans; Iris; Multiplex Polymerase Chain Reaction*; Prenatal Diagnosis*
- From:Journal of Genetic Medicine 2017;14(1):43-47
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
