Duplication of one of the products of the t(8;21) translocation in a patient with refractory anemia with excess blasts in transformation.
A 34-year-old man with refractory anemia with excess blasts in transformation is reported, having a t(8;21) translocation and a duplication of one of the products, der(21). The duplicated product had not been observed at presentation in malignant disease, as far as we are aware; thus, the findings are discussed with regard to this case and other possible smoldering leukemias. The diagnostic use of cytogenetics is also considered.
D000328:Adult; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics*; D001853:Bone Marrow / Q000648:ultrastructure; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic