Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.
Dhanya RamachandranJennifer G MulleAdam E LockeLora J H BeanTracie C RosserPromita BoseKenneth J DooleyClifford L CuaGeorge T CaponeKenneth J DooleyClifford L CuaDavid J CutlerStephanie L ShermanMichael E ZwickPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)
Our data provide strong evidence that large, rare deletions increase the risk of Down syndrome-associated atrioventricular septal defects, whereas large, common copy-number variants do not appear to increase the risk of Down syndrome-associated atrioventricular septal defects. The genetic architecture of atrioventricular septal defects is complex and multifactorial in nature.