Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. (science.sciencemag.org)
The two committees also addressed emerging advances in NIPT technology that would allow testing for additional genetic conditions, such as rare microdeletion syndromes and syndromes that interfere with sexual development. (sciencedaily.com)
Association between microdeletion and microduplication at 16p11.2 and autism. (decode.com)