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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 significance (VUS). This study was done to look for utility and various issues in interpretation of copy number variants (CNVs) in Indian patients with ID/DD.

indian journal of medical research

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