Chromosomal abnormalities underlying developmental disabilities

Principal Investigator: Jonathan Pevsner

The research question we would like to address is whether children with developmental disabilities have identifiable chromosomal abnormalities. The approach is in four parts:(1) prescreen and recruit patients having developmental disabilities; (2) obtain informed consent and then saliva and blood samples (using procedures that involve minimal risk) from patients and their parents, then deidentify the samples; (3) purify DNA and use single nucleotide polymorphism (SNP) microarrays and sequencing to identify chromosomal abnormalities in children with developmental disabilities. In some cases we will confirm chromosomal abnormalities by conventional cytogenetics techniques such as karyotyping using cell lines established from the drawn blood samples. (4) Communicate results to the parents in a limited number of instances.