Individuals with excess numbers of germline de novo CNVs [Agilent]

We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs. DNAs were isolated from blood samples or cultured lymphoblastoid cell lines. DNAs from each subject and their parents were initially analyzed on both the Agilent SurePrint G3 Unrestricted CGH 1x1M (G4824A) array or an Agilent customized array and the Roche NimbleGen Human CGH 4.2M Whole Genome Tiling Array following the manufacturer’s protocols. The same DNA samples were subsequently analyzed on SNP genotyping arrays including the Illumina HumanOmni2.5-8 Array, the Illumina HumanOmni1-Quad Array, the Affymetrix Genome-Wide Human SNP Array 6.0, and the Affymetrix CytoScan HD Array.