Dataset Information


Genotyping data from 120 trios with unexplained mental retardation

ABSTRACT: In the study we present a multicenter study in which three European diagnostic centres assessed the use of Affymetrix Mapping 500k SNP arrays for molecular karyotyping in patients with mental retardation. Each centre tested DNA from 40 patients with unexplained mental retardation together with their parents. In addition, 38 DNA samples containing known submicroscopic copy number variations (CNVs) were run for validation purposes Keywords: genomic hybridisation Overall design: We performed a validation experiement where genomic DNA of 38 patients with mental retardation was hybridized onto Affymetrix' GeneChip 250K SNP (Nsp) arrays, and identified genome-wide CNVs. An application study was then performed where 40 trios from 3 different centres where hybrized and CNVs identified.

INSTRUMENT(S): [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array

SUBMITTER: Joris Andre Veltman  

PROVIDER: GSE13117 | GEO | 2009-04-01



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Genomic microarrays have been implemented in the diagnosis of patients with unexplained mental retardation. This method, although revolutionizing cytogenetics, is still limited to the detection of rare de novo copy number variants (CNVs). Genome-wide single nucleotide polymorphism (SNP) microarrays provide high-resolution genotype as well as CNV information in a single experiment. We hypothesize that the widespread use of these microarray platforms can be exploited to greatly improve our underst  ...[more]

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