One individual in our sample came to attention of clinical geneticists due to autism spectrum disorder and was found to have a small, 300 kb microduplication within the LCR-A to B region that included RANBP1 and COMT but not TBX1. Detailed clinical evaluation and all recommended medical screening for individuals with 22q11.2-related disorders revealed none of the medical issues or dysmorphic features characteristic of the syndrome. The gene discussed is TBX1; the disease is autism spectrum disorder.