DETERMINE COPY NUMBER VARIATION LOAD IN THE GENOME OF INTELLECTUAL DISABILITY PATIENTS USING COMPARATIVE GENOMIC HYBRIDIZATION MICROARRAY.

Mental retardation, characterized by impaired intellectual functioning and adaptive behaviour, often involves chromosome anomalies. While conventional karyotyping detects some anomalies, a significant portion remains undetected due to limitations in resolution. Array-based Comparative Genomic Hybridization (aCGH) provides higher resolution and is increasingly used for diagnosis. This study aims to assess CNVs in children with intellectual disabilities using aCGH. Fiftyfour children with intellectual disabilities were selected and blood samples were obtained. DNA was extracted and analyzed using aCGH. The study was conducted at Banaras Hindu University, India, following ethical guidelines. 54 samples, 38 showed abnormal karyotypes. The remaining 16 underwent aCGH, revealing CNVs across various chromosomes. CNVs impacted genes associated with neurodevelopmental disorders (e.g., FCGR3B, CFHR3, CFHR1), immune response (e.g., HLA-DRB6, HLA-DRB1, HLA-DQA1) and metabolic pathways (e.g., UGT2B17). Chromosomes 1, 9 and 21 exhibited multiple CNVs, suggesting their involvement in intellectual disability. In conclusion, this study underscores the genetic complexity of intellectual disability, highlighting the importance of CNV analysis for diagnosis and understanding disease pathogenesis. Further research and larger-scale studies are needed to elucidate the specific contributions of CNVs to intellectual disability and inform clinical management and therapeutic strategies. [ABSTRACT FROM AUTHOR]