Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
Dana HollenbeckCrescenda L UhlesKathryn DrazbaAnthony R GreggBruce R KorfS Lane RutledgeEdward J LoseNathaniel H RobinAndrew J CarrollFady M MikhailPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Our study demonstrates the diagnostic clinical relevance of small, nonrecurrent CNVs <500 kb during CMA clinical testing and underscores the need for careful clinical interpretation of these CNVs.Genet Med 19 4, 377-385.