Diversity of molecular karyotypes of 234 pediatric patients with autism spectrum disorder in chromosomal microarray analysis - PubMed
4 hours ago
- #Chromosomal Microarray Analysis
- #Molecular Karyotype
- #Autism Spectrum Disorder
- Study analyzed CMA results of 234 pediatric ASD patients.
- Normal molecular karyotype found in 58.97% of patients.
- Abnormal results included single duplications (14.53%) and deletions (11.97%).
- Multiple CNVs occurred in 12.82% of patients.
- Pathogenic/likely pathogenic CNV diagnostic yield was 8.55%.
- Recurrent CNVs identified in regions like 15q13.3 and 22q11.21.
- Affected genes involved in neurodevelopment, neurotransmission, and metabolism.
- Hierarchical clustering revealed three distinct genetic subgroups.
- Findings confirm known ASD-associated CNV loci in a clinical cohort.
- Study highlights genetic heterogeneity and supports CMA's diagnostic utility.