Ontology highlight
ABSTRACT:
SUBMITTER: Sebat J
PROVIDER: S-EPMC2993504 | biostudies-literature | 2007 Apr
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20070315 5823
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were signif ...[more]