Korean J Perinatol.
2002 Sep;13(3):304-308.
A Case of de Novo Interstitial Deletion 16(Q13q22)
- Affiliations
-
- 1Department of Obstetrics & Gynecology, Ulsan University Hospital, Ulsan, Korea. hwy640@uuh.ulsan.kr
- 2Department of Surgical Pathology, Ulsan University Hospital, Ulsan, Korea.
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.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
- De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
- A Case of de novo Interstitial Deletion of 17 Chromosome
- A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon
- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
