All issues > Volume 42(8); 1999

Case Report

J Korean Pediatr Soc. 1999;42(8):1149-1153. Published online August 15, 1999.

A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation

So Yeon SY Yoon¹, Jae Kyun JK Hur¹, Dae Chul DC Jeong¹, Won Bae WB Lee¹, Chang Kyu CK Oh¹

¹Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea

Correspondence So Yeon SY 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).

Keywords :Wolf-Hirschhorn syndrome, Balanced translocation