Advertisement

Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients

  • W. P. Robinson
  • A. Bottani
  • X. Yagang
  • J. Balakrishnan
  • F. Binkert
  • M. Mächler
  • A. Prader
  • A. Schinzel
Part of the NATO ASI Series book series (volume 61)

Abstract

The association of an interstitial deletion of chromosome 15q11–13 with the Prader-Willi Syndrome (PWS) has been known since 1981 (Ledbetter et al, 1981 and 1982). However, about 37% of patients are cytogenetically normal (Ledbetter et al, 1987). The discovery of maternal heterodisomy for 15q11–13 in two patients with PWS (Nicholls et al, 1989) raised the question of whether such a phenomenon could explain many or even all non-deletion patients. To answer such a question requires a very good clinical diagnosis and reliable molecular data, and was the major impetus for the work presented here.

Keywords

Spinal Muscular Atrophy Interstitial Deletion Entire Chromosome Uniparental Disomy Paternal Inheritance 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Ledbetter DH, Greenberg F, Holm VA, Cassidy SB (1987) Conference report: Second annual Prader-Willi Syndrome scientific conference. Am J Med Genet 28: 779–790CrossRefGoogle Scholar
  2. Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ (1982) Chromosome 15 abnormalities and the Prader-Willi Syndrome: A follow-up report of 40 cases. Am J Hum Genet 34: 278–285PubMedGoogle Scholar
  3. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan SB, Crawford JD (1981) Deletions of chromosome 15 as a cause of the Prader-Willi Syndrome. N Engl J Med 304: 325–329PubMedCrossRefGoogle Scholar
  4. Nicholls RD, Knoll JHM, Butler MG, Karam S, LaLande M (1989) Genetic imprinting suggested by maternal heterodisomy in non- deletion Prader-Willi Syndrome. Nature 342: 281–285PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1992

Authors and Affiliations

  • W. P. Robinson
    • 1
  • A. Bottani
    • 2
  • X. Yagang
    • 2
  • J. Balakrishnan
    • 2
  • F. Binkert
    • 2
  • M. Mächler
    • 2
  • A. Prader
    • 2
  • A. Schinzel
    • 2
  1. 1.Institute of Medical Genetics, Department of PedaitricsUniversity of ZürichZürichSwitzerland
  2. 2.Institute of Medical Genetics and the Department of PediatricsUniversity of ZürichSwitzerland

Personalised recommendations