Thirty-eight consecutive patients with a FAB-classified primary myelodysplastic syndrome (MDS) were investigated for in vitro growth of colony-forming units for granulocyte-macrophage precursors (CFU-GM) and cytogenetic analysis of bone marrow cells. Abnormal CFU-GM growth was found in 30 patients (79%), and clonal chromosome abnormalities were found in 13 patients (34%). The eight patients who showed normal CFU-GM growth were either cytogenetically normal (n = 5), or had a 5q-deletion (n = 3) as single or dominating karyotypic abnormality. Among the 30 patients with reduced or no colony growth, ten patients had a clonal chromosome abnormality. Leukemia developed in eight patients. None of them grew any CFU-GM colonies, and three of them were cytogenetically abnormal at the time of diagnosis of MDS. Analysis of the bone marrow in vitro growth for CFU-GM and the karyotype in patients with MDS emphasizes the close relationship between these disorders and manifest acute leukemia. Subgroups of MDS may be defined by a cytogenetic classification (e.g., the 5q-syndrome), and the CFU-GM growth pattern can be of value for predicting leukemic transformation.