ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

Abstract

1 2 Background: Sporadic deletions removing 100s-1000s kb of DNA, and 3 variable numbers of poorly characterised genes, are often found in patients 4 with a wide range of developmental abnormalities. In such cases, 5 understanding the contribution of the deletion to an individual's clinical 6 phenotype is challenging. 7 Methods: Here, as an example of this common phenomenon, we analysed 8 34 patients with simple deletions of ~177 to ~2000 kb affecting one allele of 9 the well characterised, gene dense, distal region of chromosome 16