Array-CGH: importance in the study of developmental delays in pediatrics

Area of Science:

• Genetics
• Pediatrics
• Neurodevelopmental Disorders

Background:

• Global developmental delay (GDD) and intellectual disability (ID) are characterized by impaired intellectual and adaptive functioning.
• Chromosomal imbalances are frequent causes of GDD and ID.
• Array comparative genomic hybridization (aCGH) is a key genetic test for unexplained intellectual disability.

Purpose of the Study:

• To evaluate the diagnostic yield of aCGH in pediatric patients presenting with GDD or ID.
• To analyze the types and frequencies of chromosomal abnormalities detected by aCGH in this cohort.

Main Methods:

• Retrospective analysis of 215 pediatric patients undergoing aCGH testing between 2012 and 2017.
• Patients were investigated for GDD or intellectual disability.

Main Results:

• A significant proportion of patients (23.3%) showed pathogenic deletions or duplications via aCGH.
• Chromosomal abnormalities were detected in 56% of patients with intellectual disability and 44% with GDD.
• Chromosomes 1, 2, 16, and 22 were most frequently implicated.

Conclusions:

• The study confirms a higher prevalence of these genetic abnormalities in males.
• The detection rate of pathogenic abnormalities using aCGH in this cohort exceeded that reported in previous studies.