Cargando…
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...
Autores principales: | Nair, Sreelata, Varghese, Rini, Hashim, Sajeed, Scariah, Pappachan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
|
Materias: | |
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 |
Ejemplares similares
-
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
por: Hladilkova, Eva, et al.
Publicado: (2015) -
Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features
por: Korpaisarn, Sira, et al.
Publicado: (2013) -
Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome
por: Dilzell, Kristen, et al.
Publicado: (2015) -
An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly
por: Carter, J., et al.
Publicado: (2017) -
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
por: Al-Zahrani, Jawaher, et al.
Publicado: (2011)