A de Novo Translocation of Chromosomes 1 and 2 in an 18 Year old boy with Syndromic Mental Retardation

Neetha, J and Girisha, KM and Gopinath, PM and Sekhar, MR (2012) A de Novo Translocation of Chromosomes 1 and 2 in an 18 Year old boy with Syndromic Mental Retardation. GENETIC COUNSELING, 23 (4). pp. 473-476.

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Abstract

A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation: Chromosome analysis of cultured lymphocytes from an 18 year old mentally retarded boy with minor dysmorphic features revealed a de novo inverted insertion translocation involving chromosomes 1 and 2. The chromosome complement was interpreted as 46,XY, inv ins(1;2)(q44;p12pter). Parents were phenotypically normal with no chromosomal anomalies

Item Type: Article
Uncontrolled Keywords: Mental retardation – Dysmorphic features – Inverted insertion translocation
Subjects: Life Sciences > MLSC Manipal
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 12 Jan 2013 09:47
Last Modified: 12 Jan 2013 09:47
URI: http://eprints.manipal.edu/id/eprint/77961

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