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Published online by Cambridge University Press: 01 August 2014
An increasing number of clinical observations and genetic experiments have shown that some parts of the genome behave differently depending on whether they are of paternal or maternal origin. This phenomenon is known as “genomic imprinting” and has been defined as “a reversible process whereby a gamete-specific modification in the parental generation can sometimes lead to functional differences between maternal and paternal genomes in diploid cells of the offspring” [1]. The accumulating evidence for its important role in cancer predisposition syndromes as well as for the pathogenesis of certain types of sporadic tumors prompted us to investigate whether imprinting may also be instrumental in selecting particular parental chromosome regions involved in balanced rearrangements, such as the leukemia-specific translocation t(9;22) [2]. Several reports have analyzed the expression, the methylation and the replication patterns of the two genes, ABL and BCR, on chromosomes 9 and 22, respectively, which are affected by this translocation [3-6]. Although not directly comparable, the results of these studies seem to invalidate our cytogenetic observations. We therefore review this controversial issue and provide some possible explanations for the contradictory results.