ArticleThe Indian journal of medical research2015
Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability.
Article in The Indian journal of medical research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Navigating Genetic Testing for India.Indian journal of pediatrics · 2026Article
- Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.Indian journal of pediatrics · 2026Article
- Chromosomal Microarray: Still Relevant in NGS Era.Indian journal of pediatrics · 2026Article
- Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China.Scientific reports · 2023Article
- Genetic and expression changes in TNF-α as a risk factor for rheumatoid arthritis pathogenesis in northeast India.Journal of genetics · 2019Article
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5 authors.
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Abstract
BACKGROUND &
objectivesCytogenetic 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.
methodsThe CMA was performed in 86 Indian patients with idiopathic ID/DD with or without dysmorphic features. CNV was reported if copy number gain was >400 kb in size and copy number loss was > 200 kb in size.
resultsPathogenic CNVs were found in 18 of 86 (20.9%) patients. One large (14 Mb size) de novo heterozygous copy number gain was found in one patient. VUS (total 31) were present in 17 of 86 (19.7%) patients. Five novel recurrent benign CNVs were also present in our patients. INTERPRETATION &
conclusionsOur findings highlight the difficulties in interpretation of CNVs identified by CMA. More Indian data on VUS and recurrent benign CNVs will be helpful in the interpretation of CMA in patients with ID/DD.
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