A 23-month-old female evaluated for profound anemia proved to have meg
akaryoblastic leukemia. The diagnosis is based on examination of bone
marrow morphology, cytochemical characteristics, and immunophenotype.
The chromosome complement of unstimulated blast cells in peripheral bl
ood and bone marrow was 48,XX, +21, +21. Tetrasomy 21 is the sole clon
al cytogenetic abnormality in this patient with megakaryoblastic leuke
mia. The constitutional complement of the patient is normal female, 46
,XX.