Genotyping data from 120 trios with unexplained mental retardation

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 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.