A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization (FISH).
- Author:
Eun Sil DONG
1
;
Mee Jeong KIM
;
Young Min AHN
;
Myoung Sook KOO
;
Hwan Keuk YONG
;
Anna LEE
Author Information
1. Department of Pediatrics, Kangnam General Hospital Public Co.
- Publication Type:Case Report
- Keywords:
Wolf-Hirschhorn Syndrome;
FISH;
Chromosome 4p
- MeSH:
Arm;
Child;
Chromosomes, Human, Pair 4;
Diagnosis;
Female;
Humans;
Hypertelorism;
Intellectual Disability;
Lip;
Wolf-Hirschhorn Syndrome*
- From:Journal of the Korean Pediatric Society
2000;43(3):438-443
- CountryRepublic of Korea
- Language:Korean
-
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).
