J Korean Pediatr Soc.
1999 Aug;42(8):1149-1153.
A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
- Affiliations
-
- 1Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
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).
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization (FISH)
- Wolf-Hirschhorn (4p-) Syndrome Presenting with Status Epilepticus
- Prenatal diagnosis of 4p deletion syndrome: A case series report
- Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report
- A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
