1.
Indian J Hum Genet
;
2012 Jan; 18(1): 127-129
Artigo
em Inglês
| IMSEAR
| ID: sea-139460
RESUMO
In this report, we describe a one and a half year old girl showing terminal deletion of long arm of chromosome 6q. The associated abnormalities such as congenital heart disease, mental retardation, and dysmorphic features are described. Cytogenetic studies with GTG banding showed 46,XX,del(6)(q24→qter). Karyotype of the parents was normal suggesting a denovo event.