J Genet Med.  1998 Dec;2(2):49-51.

Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome

Affiliations
  • 1Genetic Research Laboratory, Samsung Cheil Hospital and Women's Healthcare Center, Seoul 110-745, Korea. genelab@samsung.co.kr
  • 2Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Seoul 110-745, Korea.
  • 3Department of Pathology, Samsung Cheil Hospital and Women's Healthcare Center, Seoul 110-745, Korea.
  • 4Department of Diagnostic Radiology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University, College of Medicine, Seoul 110-745, Korea.

Abstract

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

Keyword

Wolf-Hirschhorn syndrome (WHS); prenatal diagnosis; triple test; chromosome 4p deletion
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