Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence
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DOI: 10.1159/000498904
Abstract: Chromosomal microarray (CMA) is currently considered as a first-tier test in the genetic assessment of patients presenting with intellectual disability and/or multiple congenital abnormalities. The distinction between pathogenic CNVs, polymorphisms, and variants of unknown significance… read more here.
Keywords: characterization familial; molecular characterization; duplication; 20p11 1p12 ... See more keywords