Examples included: (i) 213050 with Klinefelter syndrome (47,XXY) and an autosomal 181 kb duplication affecting MCPH1; (ii) 206760 with a 191 kb deletion impacting DLGAP2 and a 154 kb duplication involving DRD4 and eight more genes; and (iii) 235983S with Klinefelter syndrome (47,XXY) and an autosomal 123 kb duplication impacting DPP6. This evidence concerns the gene MCPH1 and Klinefelter syndrome.