Investigation of Chromosomal Anomalies and Copy Number Variations in Children with Autism Spectrum Disorder Using Array CGH

This study examined 54 children with autism spectrum disorder using cytogenetic and array comparative genomic hybridisation analysis to identify chromosomal anomalies and copy number variations (CNVs). Researchers found structural chromosomal anomalies in 3.7% of patients and CNVs in 18.5%, with 27.3% classified as pathogenic; notably, a previously undefined pathogenic CNV was discovered in the 3p22.3-3p22.2 region.