All issues > Volume 43(3); 2000

Case Report

J Korean Pediatr Soc. 2000;43(3):438-443. Published online March 15, 2000.

A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization(FISH)

Eun Sil ES Dong¹, Mee Jeong MJ Kim¹, Young Min YM Ahn¹, Myoung Sook MS Koo², Hwan Keuk HK Yong³, Anna AN Lee⁴

¹Department of Pediatrics, Kangnam General Hospital Public Co., Seoul, Korea
²Department of Clinical Pathology, Kangnam General Hospital Public Co., Seoul, Korea
³Children`s Municipal Hospital, Seoul, Korea
⁴Seoul Clinical Labaratories, Seoul, Korea

Abstract

Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4(4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization(FISH).

Keywords :Wolf-Hirschhorn Syndrome, FISH, Chromosome 4p