Ring chromosome 7 in Down Syndrome with acute megakaryoblastic leukemia

Abstract

Ring chromosome is an unusual cytogenetic aberration in haematological malignancies and diseases which acquire it rend to be aggressive and refractory to treatment. We present here a case report of a 2-year-old Down Syndrome (DS) girl with AMKL/MDS who manifested a ring chromosome in all her bone marrow cells. Fluorescence in situ hybridization (FISH) analysis using chromosome-7- specific DNA probe verified the diagnosis of ring chromosome 7, r(7). To the best of our knowledge, this is the third reported case of r(7) in DS individuals with AMKL/MDS.