Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

@article{Buiting1995InheritedMI,
  title={Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15},
  author={K. Buiting and S. Saitoh and S. Gross and B. Dittrich and S. Schwartz and R. D. Nicholls and B. Horsthemke},
  journal={Nature Genetics},
  year={1995},
  volume={9},
  pages={395-400}
}
  • K. Buiting, S. Saitoh, +4 authors B. Horsthemke
  • Published 1995
  • Biology, Medicine
  • Nature Genetics
  • A subset of patients with Angelman and Prader–Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DMA methylation at several loci within chromosome 15q11–13, and probably have a defect in imprinting. Using probes from a newly established 160–kb contig including D15S63 (PW71) and SNRPN, we have identified inherited microdeletions in two AS families and three PWS families. The deletions probably affect a single genetic element that we term the 15q11–13 imprinting… CONTINUE READING
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