A Case of de Novo Interstitial Deletion 16(Q13q22).
- Author:
Won Kyung SOHN
1
;
Eun Suk YOON
;
Jun YOON
;
Young Kue KIM
;
Kue Wook YOON
;
Young Joo WOO
;
Woo Young HYUN
;
Dae Jun JEON
Author Information
1. Department of Obstetrics & Gynecology, Ulsan University Hospital, Ulsan, Korea. hwy640@uuh.ulsan.kr
- Publication Type:Case Report
- Keywords:
Deletion 16(q13q22);
Congenital anomaly
- MeSH:
Aortic Coarctation;
Arm;
Chromosomes, Human, Pair 16;
Ear;
Hydrocephalus;
Karyotype;
Neck
- From:Korean Journal of Perinatology
2002;13(3):304-308
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Deletion of the long arm of chromosome 16 is uncommon. The causes of deletion are two: one is unbalanced translocation and the other is de novo deletion. In our case, a baby was born with characteristics of the deletion of the long arm of chromosome 16: distinct craniofacial dysmorphism, mild hydrocephalus, ventriculoseptal defect, coarctation of aorta, short neck, low set, small and posterially rotated ears and shortening of long bones. High resolution GTG and RBG banding analyses revealed a karyotype: 46, XY, del(16)(q13q22) de novo.
