Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

@article{Saitoh1996MinimalDO,
  title={Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.},
  author={Shinji Saitoh and Karin Buiting and Peter K. Rogan and Jessica Buxton and Daniel J. Driscoll and Joachim Arnemann and Robert M. Koenig and S. M. Malcolm and Bernhard Horsthemke and Robert D. Nicholls},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1996},
  volume={93 15},
  pages={7811-5}
}
Patients with disorders involving imprinted genes such as Angelman syndrome (AS) and Prader-Willi syndrome (PWS) can have a mutation in the imprinting mechanism. Previously, we identified an imprinting center (IC) within chromosome 15q11-ql3 and proposed that IC mutations block resetting of the imprint, fixing on that chromosome the parental imprint (epigenotype) on which the mutation arose. We now describe four new microdeletions of the IC, the smallest (6 kb) of which currently defines the… CONTINUE READING