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Background Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases. In the present study, we aimed to idenitfy the causative genetic factors in patients with ASD who have an apparently balanced chromosomal translocation in their karyotypes. Methods For mapping the broken genes as a result of chromosomal translocations, we performed whole genome DNA sequencing. Chromosomal breakpoints and large DNA copy number variations (CNV) were determined after genome alignment. Identified CNVs and single nucleotide variations (SNV) were evaluated with VCF‐BED intersect and Gemini tools, respectively. A targeted resequencing approach was performed on the JMJD1C gene in all of the ASD cohorts (220 patients). For molecular modeling, we used a homology modeling approach via the SWISS‐MODEL. Results We found that there was no contribution of the broken genes or regulator DNA sequences to ASD, whereas the SNVs on the JMJD1C, CNKSR2 and DDX11 genes were the most convincing genetic risk factors for underlying ASD phenotypes. Conclusions Genetic etiologies of ASD should be analyzed comprehensively by taking into account of the all chromosomal structural abnormalities and de novo or inherited CNV/SNVs with all possible inheritance patterns.

PURPOSE: Orthorexic tendencies are increasingly prevalent among children and adolescents This study set out to investigate the reliability and validity of the Turkish version of the Orthorexia Nervosa Inventory (ONI) in a clinical adolescent sample. METHODS: 266 adolescents aged 12-18 years, who applied to the Department of Child and Adolescents Psychiatry were included in the study. Participants completed sociodemographic data form, Orthorexia Nervosa Inventory (ONI), Eating Attitude Test, Revised Child Anxiety and Depression Scale-Child Version and ORTO-15 scales. RESULTS: The Cronbach’s alpha coefficient for the ONI reached 0.92, indicating very good internal consistency. Total factor scores and Cronbach alpha values for behaviors, impairments, and emotions were found to be 0.84, 0.84, and 0.83, respectively. The CFA performed supported the three-factor structure of the ONI obtained in the first sample. The minimum discrepancy per degree of freedom = 1.89 and the model generally fit well to the structure (RMSEA = 0.058, SRMR = 0.033, CFI = 0.92, TLI = 0.91). DISCUSSION: This study has shown that the Turkish version of the ONI is a valid and reliable scale for specifying the tendency for Orthorexia Nervosa in a Turkish adolescent population. These findings contribute in several ways to our understanding of orthorexic tendencies and provide a basis for more concrete research data that can be obtained by using the ONI, which is a reliable scale in studies to be conducted among adolescents. Level of evidence Level V, descriptive cross-sectional study.