Notable examples are co-occurrences of a 3.4 Mbp 16p13.11 duplication and a 3.3 Mbp deletion on chromosome 4q25 involving PITX2 in a case with features of Rieger syndrome [44] (Figure 6) and a 17p13.3 deletion (YWHAE, Miller-Dieker syndrome) and 3q29 duplication (DLG1) in a child with cryptorchidism, ventricular septal defect, and seizures. The gene discussed is PITX2; the disease is ventricular septal defect.