The other three duplication carriers with an additional genomic imbalance included a male patient referred for DD and physical dysmorphisms, harbouring an additional duplication at 7q11.23, the Williams-Beuren Syndrome critical region, recently associated with autism [49], a female patient referred for DD, microcephaly and physical dysmorphisms presenting with a complex chromosome 7 rearrangement, and a male patient diagnosed with ASD or Asperger syndrome carrying a duplication of uncertain significance at Xp22.33, flanking the SHOX gene. This evidence concerns the gene SHOX and autism spectrum disorder 1.