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Title

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Authors
Bena, Frédérique
Lopez, Gipsy
Schinzel, Albert
Lespinasse, James
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Published in European Journal of Human Genetics. 2009, vol. 17, no. 4, p. 454-66
Abstract Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a complex phenotype, and a major goal of DS research is to identify genotype-phenotype correlations. Cases of partial trisomy 21 and other HSA21 rearrangements associated with DS features could identify genomic regions associated with specific phenotypes. We have developed a BAC array spanning HSA21q and used array comparative genome hybridization (aCGH) to enable high-resolution mapping of pathogenic partial aneuploidies and unbalanced translocations involving HSA21. We report the identification and mapping of 30 pathogenic chromosomal aberrations of HSA21 consisting of 19 partial trisomies and 11 partial monosomies for different segments of HSA21. The breakpoints have been mapped to within approximately 85 kb. The majority of the breakpoints (26 of 30) for the partial aneuploidies map within a 10-Mb region. Our data argue against a single DS critical region. We identify susceptibility regions for 25 phenotypes for DS and 27 regions for monosomy 21. However, most of these regions are still broad, and more cases are needed to narrow down the phenotypic maps to a reasonable number of candidate genomic elements per phenotype.
Keywords Abnormalities, Multiple/geneticsChromosome DeletionChromosomes, Human, Pair 21/geneticsComparative Genomic HybridizationDown Syndrome/geneticsGenotypeHumansPhenotypeTrisomy/genetics
Identifiers
PMID: 19002211
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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LYLE, Robert et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. In: European Journal of Human Genetics, 2009, vol. 17, n° 4, p. 454-66. https://archive-ouverte.unige.ch/unige:5576

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Deposited on : 2010-03-25

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