Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

The Prader-Willi syndrome and interstitial deletion of chromosome 15: High-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants

Summary

Fourteen patients with the Prader-Willi syndrome and five suspected infants were studied cytogenetically. High-resolution chromosome analyses with a modified ethidium bromide technique revealed an interstitial deletion of the proximal 15q in 13 out of the 14 typical patients and in four of the five suspected infants. A 15;15 Robertsonian translocation with a deletion in the proximal 15q was noticed in one infant. But in one patient, a normal karyotype was confirmed. The affected region common to all the patients was confined to a sub-band 15q11.2 (ISCN, 1981). These findings support the result of a recent study by Ledbetteret al. (1981, 1982), and indicate that the frequency of the 15q deletion in definite patients with the Prader-Willi syndrome is very high.

References

  • Holm, V.A. 1981. The diagnosis of Prader-Willi syndrome. InParader-Willi Syndrome, Holm, V.A., Sulzbacher, S.J., and Pipes, P.L., eds., University Park Press, Baltimore, pp. 27–36.

    Google Scholar 

  • Ikeuchi, T. and Sasaki, M. 1979. Accumulation of early mitotic cells in ethidium bromide-treated human lymphocyte cultures.Proc. Jpn. Acad. 55:15–18.

    Google Scholar 

  • ISCN 1981: An International System for Human Cytogenetic Nomenclature-High-Resolution Banding.Cytogenet. Cell Genet. 31: 1–32.

    Google Scholar 

  • Kouseff, B.G. 1982. The cytogenetic controversy in the Prader-Labhart-Willi syndrome.Am. J. Med. Genet. 13:431–439.

    Google Scholar 

  • Ledbetter, D.H., Riccardi, V.M., Airhart, S.D., Strobel, R.J., Keenan, B.S., and Crawford, J.D. 1981. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.New Engl. J. Med. 304: 325–329.

    Google Scholar 

  • Ledbetter, D.H., Mascarello, J.T., Riccardi, V.M., Harper, V.D., Airhart, S.D., and Strobel, R.J.. 1982. Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow-up report of 40 cases.Am. J. Hum. Genet. 34:278–285.

    Google Scholar 

  • McKusick, V.A. (ed.) 1978.Menderian Inheritance in Man, Johns Hopkins Univ. Press, Baltimore, London, p. 644.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Fukushima, Y., Niikawa, N. & Kuroki, Y. The Prader-Willi syndrome and interstitial deletion of chromosome 15: High-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants. Jap J Human Genet 29, 1–6 (1984). https://doi.org/10.1007/BF01876751

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01876751

Keywords

  • Cancer Research
  • Ethidium Bromide
  • Chromosome Analysis
  • Normal Karyotype
  • Typical Patient

Further reading

Search

Quick links