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Updated: Dec 13, 2025
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Array-CGH: importance in the study of developmental delays in pediatrics
M I Pinheiro1, C Silva1, L Lourenço2
1Hospital de São João, 4200-351 Porto, Portugal.
Insights
Array comparative genomic hybridization (aCGH) identified pathogenic chromosomal abnormalities in 23.3% of pediatric patients with global developmental delay or intellectual disability. This genetic testing method proved effective in diagnosing these neurodevelopmental disorders.
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.
Introduction:
Global developmental delay (GDD) is an intellectual and adaptive impairment in infants under 5 years of age who fail to meet expected developmental milestones. Intellectual disability is characterized by limitation in intellectual function and adaptive behavior, with onset in childhood. Frequent identifiable causes of GDD and intellectual disability are chromosomal imbalances. The array comparative genomic hybridization (aCGH) has contributed to improve the detection rate of genetic abnormalities and is considered the first-tier genetic test for unexplained intellectual disability.
Aim:
To analyze the results of a genetic study by aCGH due to GDD or intellectual disability in pediatric patients.
Patients And Methods:
Retrospective analysis of pediatric patients followed in outpatient, which underwent a genetic study by aCGH, from 2012 to 2017.
Results:
215 patients were studied by aCGH. Of the total, 64.2% were investigated for intellectual disability and 35.8% for GDD. A 23.3% presented aCGH deletions or duplications, 56% for intellectual disability and 44% for GDD, with chromosomes 16, 22, 2 and 1 being the most implicated.
Conclusion:
Our study demonstrated a higher prevalence in males, according to previously published reports. The rate of detection abnormalities classified as pathogenic was higher than in other studies.
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