Acute Lymphoblastic Leukemia in a Case of Ring Chromosome

Ring chromosome 13 is a rare chromosomal abnormality. The classic mode of formation of a ring chromosome is breakage of the ends of both arms of a chromosome wit fusion of the broken ends resulting in the loss of the distal fragments. The clinical phenotype will depend on loss of genetic material.. Here, we report for the first time the development of an acute lymphoblastic leukaemia (ALL) in a patient with a constitutional ring chromosome 13. The chromosome analysis of the bone marrow revealed a large deletion that involved the Retinblastoma (RB1) gene. The possible role of (RB1) gene for leukemogenesis is discussed in this patient