J Genet Med.  2017 Jun;14(1):43-47. 10.5734/JGM.2017.14.1.43.

Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

  • 1Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea. chadh001@chamc.co.kr
  • 2Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Korea.


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.


Schmid-Fraccaro syndrome; Prenatal diagnosis of cat eye syndrome; Chromosome 22 partial tetrasomy; Multiplex polymerase chain reaction; Chromosome marker
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