J Pediatr Genet 2019; 08(01): 001-009
DOI: 10.1055/s-0038-1676583
Original Article
Georg Thieme Verlag KG Stuttgart · New York

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

Pinar Arican
1   Department of Pediatric Neurology, Tepecik Training and Research Hospital, Izmir, Turkey
,
Nihal Olgac Dundar
2   Department of Pediatric Neurology, Katip Celebi University, Izmir, Turkey
,
Berk Ozyilmaz
3   Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey
,
Dilek Cavusoglu
2   Department of Pediatric Neurology, Katip Celebi University, Izmir, Turkey
,
Pinar Gencpinar
2   Department of Pediatric Neurology, Katip Celebi University, Izmir, Turkey
,
Kadri Murat Erdogan
3   Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey
,
Merve Saka Guvenc
3   Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey
› Author Affiliations
Funding The authors received no financial support for the research, authorship, and or publication of this article.
Further Information

Publication History

07 October 2018

30 October 2018

Publication Date:
14 December 2018 (online)

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.

 
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