Detection of CNVs in patients with syndromic intellectual disability

Illumina whole genome SNP (single nucleotide polymorphism) microarray analysis was carried out on the patient in order to determine copy number variations and to assess their disease etiopathogenesis. A SNP-CGH test was carried out on the patient in order to determine copy number variations and to assess their disease etiopathogenesis. This approach consists of three main steps. First, the SNP genotyping consists from DNA amplification,First, the SNP genotyping consists from DNA amplification, fragmentation, precipitation, resuspendation, DNA hybridization on SNP chips, washing, dyeing and scanning of SNP chips. Second, primary analysis of results includes project establishment using Genotyping Module v1.9 software, genome visualisation tool of GenomeStudio™ Genotyping Module v1.9 software and QuantiSNP v2.1 software for determining CNVs. The third step includes biocomputational analysis of CNVs in Genome browser of GenomeStudio™ Genotyping Module v1.9 software and in DGV, Decipher and in others databases.