Copy number variation (CNV) has recently been identified as a major cause of structural variation in the genome, involving both duplications ... et al. A chromosome 8 gene-cluster polymorphism ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease ...

Shashidar Pai, MD, Director, Genetics and Developmental Pediatrics Medical University of South Carolina, Children's Hospital, Charleston, South Carolina Author's email: stuarts@musc.edu Disclosure ...