Cytogenetic findings in siblings with a myelodysplastic syndrome

A brother and sister, both in their third decade, presented 6 months apart with severe pancytopenia. Bone marrow examination demonstrated morphologic changes, characteristic of the myelodysplastic syndromes, subtype refractory anemia with excess of blasts; cytogenetic studies revealed complex but different karyotypic abnormalities in both siblings. No history of exposure to mutagenic agents was obtained; there was no evidence of congenital anomalies in the family. Both siblings died within 18 months of diagnosis from complications related to their disease. This report describes the clinical course and discusses the cytogenetic findings for both siblings.