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

Department of Medical Genetics, Kasturba Medical College, Manipal

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

1 Citation (Scopus)

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

All Science Journal Classification (ASJC) codes

Genetics(clinical)

Cite this

@article{14e20b3531804ed7b65a417f3b4e53d9,

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

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.",

author = "J. Neetha and Girisha, \{K. M.\} and Gopinath, \{P. M.\} and Sekhar, \{M. R.\}",

year = "2012",

language = "English",

volume = "23",

pages = "473--476",

journal = "Genetic Counseling",

issn = "1015-8146",

publisher = "Editions Medecine et Hygiene",

number = "4",

}

TY - JOUR

T1 - A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation

AU - Neetha, J.

AU - Girisha, K. M.

AU - Gopinath, P. M.

AU - Sekhar, M. R.

PY - 2012

Y1 - 2012

N2 - 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.

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.

UR - https://www.scopus.com/pages/publications/84873348616

UR - https://www.scopus.com/pages/publications/84873348616#tab=citedBy

M3 - Article

C2 - 23431746

AN - SCOPUS:84873348616

SN - 1015-8146

VL - 23

SP - 473

EP - 476

JO - Genetic Counseling

JF - Genetic Counseling

IS - 4

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Other files and links

Fingerprint

Cite this