Molecular Karyotype Diversity in 234 Pediatric Autism Spectrum Disorder Patients Using Chromosomal Microarray Analysis

This retrospective study analyzed chromosomal microarray results from 234 children with autism spectrum disorder, finding normal results in 59% and pathogenic copy number variations in 8.55% of cases. The most frequent abnormalities were single duplications and deletions, with specific genomic regions identified across multiple patients, contributing to understanding of genetic heterogeneity in ASD.