Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
European journal of human genetics : EJHG - 1 Aug 2014
Pham Justin, Shaw Chad, Pursley Amber, Hixson Patricia, Sampath Srirangan, Roney Erin, Gambin Tomasz, Kang Sung-Hae L, Bi Weimin, Lalani Seema, Bacino Carlos, Lupski James R, Stankiewicz Pawel, Patel Ankita, Cheung Sau-Wai
Abstract excerpt
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...
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