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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Publicat a:Genet Med
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2018
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Article
Accés en línia: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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