A cytogenetic study of children with developmental delay mental retardation

Rajasekhar, M and John, Neetha and Gopinath, PM and Satyamoorthy, K (2011) A cytogenetic study of children with developmental delay mental retardation. Int J Hum Genet, 11 (2). pp. 89-92.

[img] PDF
1-_Int_J_Hum_Genet-_2011-11-_89-92.pdf - Published Version
Restricted to Registered users only

Download (37kB) | Request a copy


The presented study was carried out to identify the chromosomal abnormalities in children with mental retardation and associated anomalies, registered at Kasturba Hospital, Manipal and in and around clinics during 2005-2009. Four hundred and twenty children were subjected to clinical and G-banded cytogenetic evaluation. Of these, 245 children reported as autosomal trisomy and variants who were initially diagnosed for Down syndrome, 14 had structural abnormalities, who were mentally retarted with associated congenital anomalies. The rest were found to have normal chromosomal karyotypes although they were diagnosed with developmental delay and associated malformations. In conclusion, the study suggests that G-banded karyotyping is a routine clinical test for Mental retardation (MR) patients with or without congenital anomalies, albeit molecular karyotyping needs to be applied for detection of submicroscopic chromosome alterations.

Item Type: Article
Uncontrolled Keywords: Mental Retardation. Developmental Delay. Down syndrome. Congenital Anomalies.
Subjects: Life Sciences > MLSC Manipal
Depositing User: KMC Manipal
Date Deposited: 31 Jan 2012 10:10
Last Modified: 31 Jan 2012 10:10
URI: http://eprints.manipal.edu/id/eprint/2800

Actions (login required)

View Item View Item