TBX6 and autism spectrum disorder: Firstly, two cases of de novo proximal 16p 11.2 deletion CNVs involving the recurrent BP4 and BP5 breakpoint (BP) regions, including the morbid gene TBX6 (MIM: 611913), were detected in this study; the deletion of this region may be associated with developmental delay, cognitive impairment, language delay, autism spectrum disorder, delayed language development, or minor dysmorphic facial features.