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Scientific article
English

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

Published inEuropean journal of medical genetics, vol. 52, no. 1, p. 49-52
Publication date2009
Abstract

Chromosomal imbalances, recognized as the major cause of mental retardation (MR), are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. Array-based comparative genomic hybridization (array-CGH) improves considerably the detection rate of submicroscopic chromosomal abnormalities and has proven to be an effective tool for detection of submicroscopic chromosome abnormalities in children with MR and/or multiple congenital defects. Observations of array-CGH deletions in defined chromosomal regions linked to a clinical phenotype will more and more allow to define genotype-phenotype correlations. We report here the case of a 10-year-old female with a de novo 7.8 Mb deletion in the 6q13-6q14.1 ascertained by array-CGH. The clinical features of this patient include psychomotor and language delay associated with minor dysmorphic features.

Keywords
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 16
  • Comparative Genomic Hybridization
  • Female
  • Genotype
  • Humans
  • Language Development Disorders/ genetics
  • Mental Retardation/ genetics
  • Phenotype
  • Psychomotor Disorders/genetics
Citation (ISO format)
LESPINASSE, James et al. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms. In: European journal of medical genetics, 2009, vol. 52, n° 1, p. 49–52. doi: 10.1016/j.ejmg.2008.10.001
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ISSN of the journal1769-7212
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