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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

Nature volume 376, pages 145–149 (1995)Cite this article

Abstract

The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q−) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.

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Author information

Authors and Affiliations

  1. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, UK

    C. Jones

  2. Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, California, 92093, USA

    L. Penny

  3. Clinica Pediatrica, I Universita di Catania, viale Andrea Doria, 6, Catania, Sicily, Italy

    T. Mattina

  4. Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital, North Adelaide, South Australia, 5006, Australia

    S. Yu , E. Baker, G. R. Sutherland & R. I. Richards

  5. Murdoch Institute, 10th Floor Royal Children's Hospital, Flemington Road, Melbourne, Victoria, 3052, Australia

    L. Voullaire

  6. Department of Biochemistry, University of Western Australia, Nedlands, West Australia, 6009, Australia

    W. Y. Langdon

  7. Quadrant Research Foundation, Maris Lane, Trumpington, Cambridge, CB2 2SY, UK

    A. Tunnacliffe

Authors
  1. C. Jones
  2. L. Penny
  3. T. Mattina
  4. S. Yu
  5. E. Baker
  6. L. Voullaire
  7. W. Y. Langdon
  8. G. R. Sutherland
  9. R. I. Richards
  10. A. Tunnacliffe

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Cite this article

Jones, C., Penny, L., Mattina, T. et al. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 376, 145–149 (1995). https://doi.org/10.1038/376145a0

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  • DOI: https://doi.org/10.1038/376145a0

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