Unusual 8p inverted duplication deletion with telomere capture from 8q.

@article{Buysse2009Unusual8I,
  title={Unusual 8p inverted duplication deletion with telomere capture from 8q.},
  author={Karen Buysse and Francesca Antonacci and Bert Callewaert and Bart Loeys and Ulrike Fr{\"a}nkel and Victoria Mok Siu and Geert Mortier and Frank Speleman and Bj{\"o}rn Menten},
  journal={European journal of medical genetics},
  year={2009},
  volume={52 1},
  pages={31-6}
}
Inverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at 8p23.1. These rearrangements result in a proximal inverted duplication of various extent, a single copy region between the OR gene clusters and a terminal 8p deletion. The terminal deletions are stabilized by direct addition of telomeric repeats, so called telomere healing. Here, we report a patient with… CONTINUE READING