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 journalArticle

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 languageEnglish
Pages (from-to)473-476
Number of pages4
JournalGenetic Counseling
Volume23
Issue number4
Publication statusPublished - 2012

Fingerprint

Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 1
Intellectual Disability
Chromosomes
Mentally Disabled Persons
Parents
Lymphocytes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

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A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation. / Neetha, J.; Girisha, K. M.; Gopinath, P. M.; Sekhar, M. R.

In: Genetic Counseling, Vol. 23, No. 4, 2012, p. 473-476.

Research output: Contribution to journalArticle

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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.

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