A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation

J. Neetha; K. M. Girisha; P. M. Gopinath; M. R. Sekhar

A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation

J. Neetha, K. M. Girisha, P. M. Gopinath, M. R. Sekhar

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	473-476
Number of pages	4
Journal	Genetic Counseling
Volume	23
Issue number	4
Publication status	Published - 2012
Externally published	Yes

Keywords

Dysmorphic features
Inverted insertion translocation
Mental retardation

ASJC Scopus subject areas

Genetics(clinical)

Cite this

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abstract = "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.",

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AU - Sekhar, M. R.

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AB - 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.

KW - Dysmorphic features

KW - Inverted insertion translocation

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A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation

Abstract

Keywords

ASJC Scopus subject areas

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Cite this