A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.

@article{Ritchie1998ALP,
  title={A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.},
  author={R J Ritchie and Marie Genevi{\`e}ve Mattei and Marc E. Lalande},
  journal={Human molecular genetics},
  year={1998},
  volume={7 8},
  pages={1253-60}
}
We report the identification of a partial duplication of GABRA5 , a gene within the imprinted 15q11-q13 region. The duplicated locus maps to the pericentromeric region of 15q, proximal to the large deletions associated with Angelman and Prader-Willi syndromes. We also observed variation in the number of copies of this locus in different individuals, indicating that the duplication is part of a variable repeat. Investigation of the duplication in individuals with a normal karyotype revealed… CONTINUE READING

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Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

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