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Title

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

Authors
Lespinasse, James
Bena, Frédérique
Published in European Journal of Medical Genetics. 2009, vol. 52, no. 1, p. 49-52
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 ChildChromosome DeletionChromosomes, Human, Pair 16Comparative Genomic HybridizationFemaleGenotypeHumansLanguage Development Disorders/ geneticsMental Retardation/ geneticsPhenotypePsychomotor Disorders/genetics
Identifiers
PMID: 18992376
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Research group Groupe Giacobino Ariane (génétique) (923)
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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. https://archive-ouverte.unige.ch/unige:8855

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Deposited on : 2010-07-12

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