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Updated: Dec 14, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Utility of Chromosomal Microarray in Children with Unexplained Developmental Delay/Intellectual Disability.

Vandana Kamath1, Sangeetha Yoganathan2, Maya Mary Thomas2

  • 1Department of Cytogenetics, Christian Medical College and Hospital, Vellore, India.

Fetal and Pediatric Pathology
|July 24, 2020
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Summary

Chromosomal microarray (CMA) testing identified pathogenic copy number variations (pCNVs) in 20.9% of children with global developmental delay/intellectual disability (GDD/ID). Cardiac defects significantly predicted pCNV findings in these pediatric patients.

Keywords:
Pathogenic copy number variationchromosomal microarrayglobal developmental delaykaryotype

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Area of Science:

  • Pediatric Genetics
  • Clinical Diagnostics
  • Genomic Medicine

Background:

  • Global developmental delay/intellectual disability (GDD/ID) affects a significant pediatric population.
  • Identifying the genetic underpinnings of GDD/ID is crucial for diagnosis and management.
  • Chromosomal microarray (CMA) is a key tool for detecting copy number variations.

Purpose of the Study:

  • To determine the diagnostic yield of CMA in children with unexplained GDD/ID.
  • To investigate the association between specific clinical features and pathogenic copy number variations (pCNVs).
  • To compare CMA findings with traditional karyotyping.

Main Methods:

  • Retrospective analysis of CMA results in children with GDD/ID.
  • Categorization of pathogenic copy number variations (pCNVs) based on clinical presentation.
  • Comparison of CMA findings with prior karyotype results.

Main Results:

  • The overall yield of pathogenic copy number variations (pCNVs) was 20.9% in the cohort.
  • Cardiac defects were significantly associated with pCNV detection (OR 6.13, p=0.031).
  • CMA provided additional diagnostic information in children previously assessed with karyotyping.

Conclusions:

  • CMA is an effective diagnostic tool for children with GDD/ID, yielding pathogenic copy number variations (pCNVs) in approximately 21% of cases.
  • The presence of cardiac defects alongside GDD/ID is a strong indicator for pCNV detection via CMA.
  • CMA offers valuable insights, even in patients who have undergone prior karyotyping.