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

Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. Methods: We identified MCAs in genotyping array data from 12,530 probands in the Decip...

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Bibliographic Details
Main Authors: Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008452