Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

Pinar Arican; Nihal Olgac Dundar; Berk Ozyilmaz; Dilek Cavusoglu; Pinar Gencpinar; Kadri Murat Erdogan; Merve Saka Guvenc

doi:10.1055/s-0038-1676583

Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

J Pediatr Genet. 2019 Mar;8(1):1-9. doi: 10.1055/s-0038-1676583. Epub 2018 Dec 14.

Authors

Pinar Arican¹, Nihal Olgac Dundar², Berk Ozyilmaz³, Dilek Cavusoglu², Pinar Gencpinar², Kadri Murat Erdogan³, Merve Saka Guvenc³

Affiliations

¹ Department of Pediatric Neurology, Tepecik Training and Research Hospital, Izmir, Turkey.
² Department of Pediatric Neurology, Katip Celebi University, Izmir, Turkey.
³ Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey.

Abstract

Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients. CMA analysis revealed pathogenic de novo CNVs, such as 11p13 duplication with new clinical features. Our results support the utility of CMA as a routine diagnostic test for unexplained DD/ID.

Keywords: chromosomal microarray analysis; developmental delay; intellectual disability; microdeletion/microduplication.

Grants and funding

Funding The authors received no financial support for the research, authorship, and or publication of this article.