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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Genet Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller