ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS IN CHILDREN WITH DEVELOPMENTAL DELAY/INTELLECTUAL DISABILITY
Türkyılmaz A1,*, Geckinli BB2 , Tekin E3 , Ates EA4 , Yarali O5 , Cebi AH1 , Arman A2
*Corresponding Author: Ayberk Türkyılmaz, M.D., Assistant Professor, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Farabi Street, 61080 Ortahisar, Trabzon, Turkey. Tel: +90-505-812-03-34. Fax: +90-462-377-51-06. E-mail: ayberkturkyilmaz@gmail.com
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Abstract

Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years of age. Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and cause–effect relationships. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Array-based comparative genomic hybridization aCGH) can detect copy number variations (CNVs) on the whole genome at higher resolution than conventional cytogenetic methods. The diagnostic yield of aCGH was 15.0-20.0% in DD/ID cases. The aim of this study was to discuss the clinical findings and aCGH analysis results of isolated and syndromic DD/ID cases in the context of genotype-phenotype correlation. The study included 139 cases (77 females, 62 males). Data analysis revealed 38 different CNVs in 35 cases. In this study, 19 cases with pathogenic CNVs (13.6%) and five cases with likely pathogenic CNVs (3.5%) were found in a total of 139 cases diagnosed with DD/ID. When all pathogenic and likely pathogenic cases were evaluated, the diagnosis rate was 17.1%. The use of aCGH analysis as a first-tier test in DD/ID cases contributes significantly to the diagnosis rates and enables the detection of rare microdeletion/microduplication syndromes. The clear determination of genetic etiology contributes to the literature in terms of genotype-phenotype correlation.



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