| A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization(FISH) |
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Eun Sil Dong1, Mee Jeong Kim1, Young Min Ahn1, Myoung Sook Koo2, Hwan Keuk Yong3, Anna 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 |
| 형광동소보합결합법에 의해 확진된 장기 생존 Wolf-Hirschhorn Syndrome 1례 |
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동은실1, 김미정1, 안영민1, 구명숙2, 용환극3, 이안나4 |
1지방공사 강남병원 소아과
2지방공사 강남병원 임상병리과
3시립아동병원
4서울임상병리검사센터 |
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| Abstract |
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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). |
| Key Words:
Wolf-Hirschhorn Syndrome, FISH, Chromosome 4p |
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