A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation.
- Author:
So Yeon YOON
1
;
Jae Kyun HUR
;
Dae Chul JEONG
;
Won Bae LEE
;
Chang Kyu OH
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Wolf-Hirschhorn syndrome;
Balanced translocation
- MeSH:
Arm;
Chromosomes, Human, Pair 4;
Cleft Lip;
Humans;
Hypertelorism;
Intellectual Disability;
Microcephaly;
Mothers;
Palate;
Seizures;
Urogenital Abnormalities;
Wolf-Hirschhorn Syndrome*
- From:Journal of the Korean Pediatric Society
1999;42(8):1149-1153
- CountryRepublic of Korea
- Language:Korean
-
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).
