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So Yeon Yoon (Yoon SY)

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Case Report

A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation

So Yeon Yoon, Jae Kyun Hur, Dae Chul Jeong, Won Bae Lee, Chang Kyu Oh

Clin Exp Pediatr. 1999;42(8):1149-1153. Published online August 15, 1999

Wolf-Hirschhorn syndrome is caused by a partial loss of the distal short arm of chromosome 4. Characteristic clinical features are severe growth retardation, mental retardation, seizures, congenital cardiac defects, urogenital abnormalities, microcephaly, hypertelorism, prominent glabella, cleft lip and palate and micrognathia. In 87% of cases, chromosome 4 deletion arises as a de novo event, whereas in the remaining cases it...

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