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

ABSTRACT:

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 Deciphering Developmental Disorders study using mosaic chromosome alterations caller (MoChA).

Results

We found 61 MCAs in 57 probands, many of these were tissue specific. In 23 of 26 (88.5%) cases for which the MCA was detected in saliva in which blood was also available for analysis, the MCA could not be detected in blood. The MCAs included 20 polysomies, comprising either 1 arm of a chromosome or a whole chromosome, for which we were able to show the timing of the error (25% mit

SUBMITTER: Eberhardt RY 

PROVIDER: S-EPMC11436381 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature