Phenotypic Manefestations of Copy Number Variations (CNV) in 16p11.2, MYT1L, NRXN, 15q13.3 and 22q11.2

The purpose of this initiative is to conduct follow-up studies in a broad group of patients with CNVs identified by the Children's Hospital of Philadelphia (CHOP). This Contract will collect additional data and analysis from subjects screened by Children's Hospital of Philadelphia, to further identify the range of phenotypic manifestations caused by pathogenic copy number variations (CNVs) arising from deletion or duplication of the 16p11.2-16p12.2 region, 22q11.2 and deletions of part or all of the MYT1L,15q13.3 and NRXN genes. The award was made non-competitively under the authority of 41 United States Code (U.S.C.) 253(c)(1) as set forth in Federal Acquisition Regulation (FAR) 6.302-1. The Department of Psychiatry, Neuropsychiatry Section, at the University of Pennsylvania is uniquely qualified to perform this study. The University of Pennsylvania and CHOP are both affiliates of the University of Pennsylvania Health System. No sources other than University of Pennsylvania have the required access to the medical records and the subjects from the CHOP subject population.