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Research Articles

Utility of Chromosomal Microarray in Children with Unexplained Developmental Delay/Intellectual Disability

ORCID Icon, , , &
Pages 208-218 | Received 04 May 2020, Accepted 22 Jun 2020, Published online: 23 Jul 2020
 

Abstract

Objective

To evaluate the chromosomal microarray (CMA) yield among children who presented with global developmental delay/intellectual disability (GDD/ID) with/without co-occurring conditions. Methods: The pathogenic copy number variation (pCNVs) findings on CMA of all children who presented with unexplained GDD/ID were categorized based on the clinical features. The karyotype results were compared with CMA. Results: The overall pCNV yield in children presenting with GDD/ID with or without comorbid conditions constituted 20.9%. Among the 17 pCNVs, 13 were losses and four were gains. Cardiac defect was the only co-morbidity in our study that demonstrated statistically significant prediction for pCNV (odds ratio 6.13, p value- 0.031). Six children who were karyotyped prior to CMA testing showed a structural abnormality. Conclusions: In our study, 20.9% of children with GDD/ID showed pCNVs on CMA. Cardiac defect alongside GDD/ID, emerged as the single strongest phenotype associated with pCNVs. CMA also provided vital information in previously karyotyped patients.

Acknowledgement

All authors of this manuscript have significantly contributed towards this preparation of this manuscript.

Disclosure statement

Authors declare that they have no potential conflict of interest.

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