As seen in Table 5, the isolated CHD group comprised two large segmental duplications: partial trisomy 4p and Xq28 duplication syndrome, four cases of large segmental deletions (7.2 ∽ 12.3 Mb), one case of < 4 Mb duplication (Cat eye syndrome), and seven cases of < 4 Mb deletion, of which four 22q11.2 microdeletion syndrome, one 12q14 microdeletion syndrome, Del(19p13.2), and 15q11.2 BP1-BP2 microdeletion. The gene discussed is IGFBP2; the disease is cat-eye syndrome.