Article

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

2022-03-31

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Structural mosaicism has been previously implicated in developmental disorders. We aim to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. <h4>Methods</h4> We identified MCAs in SNP array data from 12,530 probands in the Deciphering Developmental Disorders (DDD) study using MoChA. <h4>Results</h4> We found 61 MCAs in...

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Literature Corpus work: ad62f4bc-bbf5-5a61-91fe-69441cf888cc
DOI: 10.1101/2022.03.28.22273024

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