Ontology highlight
ABSTRACT:
SUBMITTER: Pham J
PROVIDER: S-EPMC4350600 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Pham Justin J Shaw Chad C Pursley Amber A Hixson Patricia P Sampath Srirangan S Roney Erin E Gambin Tomasz T Kang Sung-Hae L SH Bi Weimin W Lalani Seema S Bacino Carlos C Lupski James R JR Stankiewicz Pawel P Patel Ankita A Cheung Sau-Wai SW
European journal of human genetics : EJHG 20140108 8
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases. However, somatic mosaicism is often under-diagnosed due to challenges in detection. We evaluated 10,362 patients with a custom-designed, exon-targeted whole-genome oligonucleotide array and detected somatic mosaicism in a total of 57 cases (0.55%). The mosaicism was characterized and confirmed by fluorescence in situ hy ...[more]