Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 52, Issue 1, Pages 49-52Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2008.10.001
Keywords
Chromosome 6; Microdeletion; Comparative genomic hybridization; Mental retardation; Dysmorphisms
Categories
Funding
- Swiss National Science Foundation [FNS 3100A0-116021]
- Swiss Academy for Medical Sciences
- EU IP AnEUploidy
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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-CCH 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. (C) 2008 Elsevier Masson SAS. All rights reserved
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