Article
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Journal of medical genetics - 1 Jun 2020
Babbs Christian, Brown Jill, Horsley Sharon W, Slater Joanne, Maifoshie Evie, Kumar Shiwangini, Ooijevaar Paul, Kriek Marjolein, Dixon-McIver Amanda, Harteveld Cornelis L, Traeger-Synodinos Jan, Wilkie Andrew O M, Higgs Douglas R, Buckle Veronica J
Abstract excerpt
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...
Topics
- Ataxia Telangiectasia Mutated Proteins
- Chromosome Deletion
- Chromosomes, Human, Pair 16
- DNA Copy Number Variations
- Female
- Gene Deletion
- Humans
- Intellectual Disability
- Male
- Monosomy
- Phenotype
- alpha-Thalassemia