Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high genetic basis in its etiology. Understanding the genetic underpinnings of ASD is the foundation for the advancement of the treatment of patients with ASD. The genetic basis of ASD is a complex and heterogeneous that may involve many genes, intergenic interactions, and gene-environment interactions. In this study, we conducted karyotype analysis and microarray based-comparative genomic hybridization (aCGH) analysis to understand the relationship between the genomic structural variations and ASD in our population. So far, we have detected two male patients with XXY, one male patient with XYY, one male with chromosomal translocation between chromosomes 4 and 14, one male patient with 4q deletion using conventional karyotyping analysis. In our aCGH study, we detected 17 submicroscopic genomic copy number variations (CNV) in a sample of 383 patients, with the frequency of approximately 4.4%. Among these 17 patients, 10 patients had de novo CNVs, while 7 patients had CNVs inherited from their parents. Notably, we found a patient who inherited a microduplication at 4q12-q13.1 from his mother, and a microdeletion at 5q32 from his father, indicating a compound double hits of genomic mutations might be associated with autism. Taken together, our study indicates that genomic structural variations contribute a significant role to the genetic underpinnings of ASD, and may shed a new insight into the pathogenesis of ASD.
