Five previously diagnosed samples were used as controls (Table 1): (C1) a child with Emanuel syndrome (derivative supernumerary chromosome 22 and 11 fusion; MIM: 609029)15; (C2) an apparent translocation between chromosomes 9 and 18; (C3) a diagnostic inversion that disrupts EYA [MIM:602588]; (C4) a two base deletion in IKBKG [MIM:300636]16 (VCV000429392); (C5) uniparental heterodisomy of chromosome 15 causing Prader–Willi syndrome [MIM:176270]. The gene discussed is IKBKG; the disease is Emanuel syndrome.