Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report.
Indian J Hum Genet
;
2012 Jan; 18(1): 127-129
Article
in English
| IMSEAR
| ID: sea-139460
ABSTRACT
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Chromosomes, Human, Pair 6
/
Female
/
Humans
/
Child
/
Developmental Disabilities
/
Chromosome Deletion
/
Karyotype
/
Genetic Counseling
/
Heart Defects, Congenital
/
Intellectual Disability
Language:
English
Journal:
Indian J Hum Genet
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS