Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report

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→qt...

Descripción completa

Detalles Bibliográficos
Autores principales: Nair, Sreelata, Varghese, Rini, Hashim, Sajeed, Scariah, Pappachan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385170/
https://www.ncbi.nlm.nih.gov/pubmed/22754239
http://dx.doi.org/10.4103/0971-6866.96682
Descripción
Sumario: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.

Ejemplares similares