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...

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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
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author Nair, Sreelata
Varghese, Rini
Hashim, Sajeed
Scariah, Pappachan
author_facet Nair, Sreelata
Varghese, Rini
Hashim, Sajeed
Scariah, Pappachan
author_sort Nair, Sreelata
collection PubMed
description 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.
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spelling pubmed-33851702012-07-02 Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report Nair, Sreelata Varghese, Rini Hashim, Sajeed Scariah, Pappachan Indian J Hum Genet Case 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→qter). Karyotype of the parents was normal suggesting a denovo event. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3385170/ /pubmed/22754239 http://dx.doi.org/10.4103/0971-6866.96682 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nair, Sreelata
Varghese, Rini
Hashim, Sajeed
Scariah, Pappachan
Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
title Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
title_full Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
title_fullStr Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
title_full_unstemmed Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
title_short Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
title_sort dysmorphic features and congenital heart disease in chromosome 6q deletion: a short report
topic Case Report
url 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
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