Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability-Reference-Cited by-同舟云学术

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

Published:2018-12-14 Issue:01 Volume:08 Page:001-009
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Arican Pinar¹,Ozyilmaz Berk²,Cavusoglu Dilek³,Gencpinar Pinar³,Erdogan Kadri²,Saka Guvenc Merve²,Olgac Dundar Nihal³

Affiliation:

1. Department of Pediatric Neurology, Tepecik Training and Research Hospital, Izmir, Turkey

2. Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey

3. Department of Pediatric Neurology, Katip Celebi University, Izmir, Turkey

Abstract

AbstractChromosomal 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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0038-1676583.pdf

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