Genotyping data from 49 patient 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. We performed a validation experiment where genomic DNA of 49 patients with mental retardation was hybridized onto Affymetrix' GeneChip 6.0 SNP arrays, and identified genome-wide CNVs.