J Genet Med.  1998 Dec;2(2):49-51.

Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome

• Lee MH
• Park SY
• Ryu HM
• Hong SR
• Lee YH
• Choi SK

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

MeSH Terms

Adult
Amniocentesis
Arm
Chromosomes, Human, Pair 4
Congenital Abnormalities
Female
Fetus
Fluorescence
Humans
In Situ Hybridization
Intellectual Disability
Karyotype
Parents
Pregnancy
Pregnant Women
Prenatal Diagnosis*
Trypsin
Ultrasonography
Wolf-Hirschhorn Syndrome*
Trypsin