<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p>
</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.

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

Karadeniz Technical University Faculty of Medicine

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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...

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

Article Category: Original Article

Publicado en línea: 05 jun 2022

Páginas: 15 - 24

DOI: https://doi.org/10.2478/bjmg-2021-0020

Palabras clave
Array-based comparative genomic hybridization (aCGH), Copy number variations (CNV), Developmental delay, Dysmorphic facial features, Genotype-phenotype correlation, Intellectual disability

© 2021 A Türkyılmaz et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

Article Category: Original Article

Publicado en línea: 05 jun 2022

Páginas: 15 - 24

DOI: https://doi.org/10.2478/bjmg-2021-0020

Palabras claveArray-based comparative genomic hybridization (aCGH), Copy number variations (CNV), Developmental delay, Dysmorphic facial features, Genotype-phenotype correlation, Intellectual disability

© 2021 A Türkyılmaz et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
Array-based comparative genomic hybridization (aCGH), Copy number variations (CNV), Developmental delay, Dysmorphic facial features, Genotype-phenotype correlation, Intellectual disability