Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

PURPOSE: Chromosomal microarray (CMA) is recommended as the first tier test in evaluation of individuals with neurodevelopmental disability and congenital anomalies. CMA may not detect balanced cytogenomic abnormalities or uniparental disomy (UPD), and deletion/duplications and regions of homozygosi...

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Foilsithe in:Genet Med
Main Authors: Waggoner, Darrel, Wain, Karen E., Dubuc, Adrian M., Conlin, Laura, Hickey, Scott E., Lamb, Allen N, Lese Martin, Christa, Morton, Cynthia C., Rasmussen, Kristen, Schuette, Jane L, Schwartz, Stuart, Miller, David T.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2018
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6410698/
https://ncbi.nlm.nih.gov/pubmed/29915380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0040-6
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