Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study RY Eberhardt et al, Genetics in Medicine, October 12, 2023

From the abstract: "We aim to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. We identified MCAs in SNP array data from 12,530 probands in the Deciphering Developmental Disorders (DDD) study. We found 61 MCAs in 57 probands, many of these were tissue specific. In 23/26 (88.5%) cases for which the MCA was detected in saliva where blood was also available for analysis, the MCA could not be detected in blood. The MCAs included 20 polysomies. " https://phgkb.cdc.gov/PHGKB/phgHome.action?query=Developmental%20disabilities&action=search&Mysubmit=Search