Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

  • Park, Sang Hee (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Shim, Sung Han (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Jung, Yong Wook (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Shim, So Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Chin, Mi Uk (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Park, Ji Eun (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Bae, Sung Mi (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Lyu, Sang Woo (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Cha, Dong Hyun (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University)
  • Received : 2017.06.09
  • Accepted : 2017.06.24
  • Published : 2017.06.30
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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.

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References

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