J Korean Pediatr Soc.
2000 Mar;43(3):438-443.
A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization (FISH)
- Affiliations
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- 1Department of Pediatrics, Kangnam General Hospital Public Co.
- 2Department of Clinical Pathology, Kangnam General Hospital Public Co.
- 3Children's Municipal Hospital.
- 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).
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