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

Eun Sil Dong, Mee Jeong Kim, Young Min Ahn, Myoung Sook Koo, Hwan Keuk Yong, Anna Lee

Clin Exp Pediatr. 2000;43(3):438-443. Published online March 15, 2000

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...

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