ATR-16 syndrome: mechanisms linking monosomy to phenotype.

ABSTRACT:

Background

Deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual's clinical phenotype is challenging.

Methods

Here, as an example of this common phenomenon, we analysed 41 patients with simple deletions of ~177 to ~2000 kb affecting one allele of the well-characterised, gene dense, distal region of chromosome 16 (16p13.3), referred to as ATR-16 syndrome. We characterised deletion extents and screened for genetic background effects, telomere position effect and compensatory upregulation of hemizygous genes.

Results

We find the risk of developmental and neurological abnormaliti

SUBMITTER: Babbs C 

PROVIDER: S-EPMC7279195 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature