Various promising CNVs have been reported located at 1q21.1 (RBM8A) [56–58], 16p11.2 (TBX6) [59, 60], 17q12 (LHX1, HNF1B) [56–62], as well as 22q11 [56, 57, 63, 64] associated with DiGeorge syndrome. This evidence concerns the gene HNF1B and 22q11.2 deletion syndrome.