Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

@article{Giorda2007TwoCO,
  title={Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.},
  author={Roberto Giorda and Roberto Ciccone and Giorgio Gimelli and Tiziano Pramparo and Silvana Beri and Maria Clara Bonaglia and Sabrina Giglio and Maurizio Genuardi and Jes{\'u}s Argente and Mariano Rocchi and Orsetta Zuffardi},
  journal={Human mutation},
  year={2007},
  volume={28 5},
  pages={459-68}
}
We describe a new type of rearrangement consisting of the duplication of 8p23.1 and the triplication of 8p23.2 [dup trp(8p)] in two patients affected by mental retardation and minor facial dysmorphisms. Array-comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH), and genotyping of polymorphic loci allowed us to demonstrate that this rearrangement is mediated by the combined effects of two unrelated low-copy repeats (LCRs). The first set of LCRs consists of the two… CONTINUE READING