Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability

Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability

Background & objectives: Cytogenetic microarray (CMA) is now recommended as a first-tier clinical diagnostic test in cases with idiopathic intellectual disability and/or developmental delay (ID/DD). Along with clinically relevant variants, CMA platforms also identify variants of unknown signific...

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Bibliographic Details
Main Authors: Vijay Raju Boggula, Meenal Agarwal, Rashmi Kumar, Shally Awasthi, Shubha R Phadke
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2015-01-01
Series:Indian Journal of Medical Research
Subjects:
Cytogenetic microarray - idiopathic intellectual disability - recurrent CNV - VUS
Online Access:http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2015;volume=142;issue=6;spage=699;epage=712;aulast=Boggula

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http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2015;volume=142;issue=6;spage=699;epage=712;aulast=Boggula

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