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A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation

Journal of the Korean Pediatric Society 1999;42(8):1149-1153.
Published online August 15, 1999.
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
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
Familial Translocation에 의한 Wolf-Hirschhorn 증후군 1례
윤소연, 허재균, 정대철, 이원배, 오창규
가톨릭대학교 의과대학 소아과학교실
Correspondence: 
So Yeon Yoon, Email: 1
Abstract
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 is derived from a familial balanced translocation. Chromosomal study of the patient showed 46 ⅩⅩ der(4)t(4;18)(p15.2;q23), and the patient's mother was found to have a balanced translocation, 46 ⅩⅩ t(4;18)(p15.2;q23).
Key Words: Wolf-Hirschhorn syndrome, Balanced translocation


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