Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.

摘要

The paradigmatic example of an inverted duplication with terminal deletion of a chromosome region is the inv dup del of the short arm of the chromosome 8 (8p) which was first described in 1976 by Weleber et al. Since then, this chromosome alteration has been described involving almost all chromosome arms and many ring chromosomes [Leclercq et al., 2009; Rowe et al., 2009], showing that this type of chromosome alteration is more frequent than was initially though [Zuffardi et al., 2009]. Nevertheless, as far as we know, inverted duplications involving the long arm of chromosome 8 (8q) have only been described once, with apparently no terminal deletion [Bonaglia et al., 2005]. It is well accepted that these "inv dup del" alterations are generated in all cases through the formation of a dicentric chromosome that breaks in a subsequent meiotic/ mitotic division producing a monocentric duplicated and deleted chromosome, which needs to be immediately repaired for stability [Vanneste et al., 2009; Yu and Graf, 2010].