ML-DS has a distinct cytogenetic profile compared with sporadic AML in children without Down syndrome in that the favourable cytogenetic changes such as AML-ETO t(8;21), PML-RARA t(15;17), MLL t(9;11) and CBFB MYH11 inv[16] nor the acute megakaryoblastic leukaemia-associated translocations RBM15-MKL1 t(1;22) and t(1;3) occur in ML-DS [48, 49]. The gene discussed is CBFB; the disease is acute myeloid leukemia.