Deletion of 3′-CBFB Gene in Association with an Inversion (16)(p13q22) and a Loss of the Y Chromosome in a 2-Year-Old Child with Acute Myelogenous Leukemia-M4

Inversion 16(p13q22) is most commonly associated with acute myelomonocytic leukemia with abnormal eosinophils (M4). In association with this inversion, a proximal deletion at the 16p13 primary arm breakpoint occurs in 20% of cases. We report on a first case of inversion 16 with a distal deletion at the primary arm breakpoint 16q22, detected by using the fluorescent-labeled dual-color probe CBFB.