Evidence map›Paper›PMID 40338472›Full record

ArticleIndian journal of pediatrics2026

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.

Meena Bajaj Lall, Anju Joshi, Shruti Agarwal, Pushpa Saviour, Preeti Paliwal, Sunita Bijarnia Mahay, Ratna Dua Puri, Ishwar Chander Verma

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Article in Indian journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Chromosomal Microarray: Still Relevant in NGS Era.Indian journal of pediatrics · 2026
    Article
4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Meena Bajaj LallInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India. lallmeena@gmail.com.ORCID 0000-0003-1333-2752
Anju JoshiInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India.
Shruti AgarwalInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India.
Pushpa SaviourInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India.
Preeti PaliwalInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India.
Sunita Bijarnia MahayInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India.
Ratna Dua PuriInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India.
Ishwar Chander VermaInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India.

Funding

GRIPMER EC/11/11/23-funding pilot study
6 · The paper itself

Abstract

objectivesTo present authors' experience of chromosome microarray analysis (CMA) as the first-tier test, which contributed to accumulation and annotation of copy number variations (CNVs) and discovery of novel genetic hot spots in Indian pediatric patients.

methodsKaryotyping and CMA (4X180K Agilent) were performed in 300 patients with developmental delay, dysmorphism, autism, intellectual disability or congenital malformations. Various databases such as ClinVar, Clin Gen, OMIM, DECIPHER, etc. were used for interpretation of the results.

resultsThe diagnostic yield of clinically significant findings by CMA [16.00% (48/300)] was 9.0% higher than that by karyotyping [7.0% (21/300)]. There were 2.66% (08/300) patients with variations of uncertain significance (VOUS) which were challenging to interpret. Benign variations were considered normal.

conclusionsCMA allows increased diagnostic yield of known and new microdeletion/duplication syndromes and molecular characterization of marker chromosomes with gene annotations. There is insufficient data published from India. Every such test done on Indian patients contributes to Indian data accumulation of pathogenic CNVs (pCNVs) and VOUS for future resolution. The benefit of CMA as a first-tier test is that it can improve the understanding towards the associated known and new genetic hot spots, thus providing a better genotype-phenotype correlation. Pre-test and post-test genetic counseling is important.

Indexed as

Chromosome AberrationsDevelopmental DisabilitiesMicroarray AnalysisAdolescentAutistic DisorderChildChild, PreschoolCohort StudiesDNA Copy Number VariationsFemaleGenetic TestingHumansIndiaInfantIntellectual DisabilityKaryotypingAutismCMACNVCongenital malformationDevelopmental delayDysmorphism

Identifiers

PMID40338472

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