A 3-year-old Italian boy with neurodevelopmental delay and autism spectrum disorder was diagnosed with a de novo 13.4-Mb triplication of chromosome region 3p24.3p23, a previously unreported genetic variant potentially linked to a syndromic type of autism spectrum disorder. The patient presented developmental delay, autism symptoms, and physical anomalies such as cardiac defects, and the findings were published in the Journal of Medical Case Reports.

Genetic evaluation revealed triplication of chromosome 3 region 3p24.3p23, and the researchers reported it as the first clinical description of developmental delay and autistic symptoms associated with this triplication. The authors suggested that dysregulation of the SATB1 gene within the triplicated region could be responsible for the clinical phenotype. Treatment for the child included physiotherapy, speech therapy, applied behavioral analysis (ABA) intervention, and parental training focused on behavioral management and improvement of adaptive skills.