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Prader-Willi Syndrome

and Other Chromosome 15q Deletion Disorders

  • Conference proceedings
  • © 1992

Overview

Editors:
  1. Suzanne B. Cassidy

    1. College of Medicine, Section of Genetics/Dysmorphology, University of Arizona, Tucson, USA

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Part of the book series: Nato ASI Subseries H: (ASIH, volume 61)

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Table of contents (29 papers)

  1. Front Matter

    Pages I-XII
    Download chapter PDF

  2. Introduction and Overview of Prader-Willi Syndrome

    1. Introduction and Overview of Prader-Willi Syndrome

      • Suzanne B. Cassidy
      Pages 1-11

  3. Molecular Genetics of Prader-Willi and Angelman Syndromes

    1. Microdissection and Molecular Analysis of Proximal 15q

      • Karin Buiting, Valerie Greger, Ingrid Hörstmann, Hermann-Josef Lüdecke, Gabriele Senger, Uwe Claussen et al.
      Pages 13-16

    2. The Irregular Inheritance of Angelman Syndrome and Prader-Willi Syndrome

      • Marcus E. Pembrey, J. Clayton-Smith, T. Webb, S. Malcolm
      Pages 17-26

    3. Characterization of cDNA Clones Corresponding to Genomic Loci Rearranged in Patients with Prader-Willi Syndrome

      • C. A. Gregory, A. J. Kirkilionis, J. L. Hamerton
      Pages 27-32

    4. Possible Genomic Imprinting at the Angelman Syndrome Gene Locus

      • Norio Niikawa, J. Hamabe
      Pages 33-40

    5. Molecular Analysis in Angelman Syndrome. Prader-Willi Syndrome and Potental Mouse Models

      • R. D. Nicholls, W. Gottlieb, M. J. Mascari, E. M. Rinchik, G. S. Pai, D. J. Driscoll et al.
      Pages 41-51

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

      • W. P. Robinson, A. Bottani, X. Yagang, J. Balakrishnan, F. Binkert, M. Mächler et al.
      Pages 53-58

  4. Cytogenetics of Prader-Willi and Angelman Syndromes

    1. Cytogenetic Comparison between Prader-Willi and Angelman Syndromes

      • R. Ellen Magenis, SuEllen Toth-Fejel
      Pages 59-74

    2. Mosaicism for Deletion 15q11q13 in Sporadic and Familial Cases

      • Shivanand R. Patil, Bryce Hauschildt, Marie Greally, Chris Headley, Denise Wilson, James Hanson et al.
      Pages 75-94

    3. Prader-Willi Syndrome and Angelman Syndrome in Two Female Cousins as a Result of a Familial Translocation

      • D. F. C. M. Smeets, M. R. Nelen, B. C. J. Hamel, A. P. T. Smits, H. J. M. Smeets, J. H. M. Bollen et al.
      Pages 95-100

    4. Implications for the Recurrence Risk in the Prader-Willi Syndrome on the Basis of Proposed Genomic Imprinting

      • Ingo Kennerknecht
      Pages 101-104

  5. Clinical Aspects of Prader-Willi Syndrome: National Studies

    1. Diagnostic Criteria for Prader-Willi Syndrome

      • Vanja A. Holm, Suzanne B. Cassidy, Merlin G. Butler, Jeanne M. Hanchett, Frank Greenberg, Barbara Y. Whitman et al.
      Pages 105-117

    2. An Australian Collaborative Study of Prader-Willi Syndrome Individuals and Their Families

      • Arabella Smith, S. White, G. Warne, P. Montgomery, J. Nelson, H. Beange et al.
      Pages 119-128

    3. A Family Focused Care Model for PWS in Norway - The Frambu Experience

      • Christian Aashamar, Arvid Heiberg, Kari Storhaug, Bjørn Lofterød
      Pages 129-130

    4. Prader-Willi Syndrome in Norway an Epidemiological and Sociomedical Study

      • Bjørn Lofterød, Arvid Heiberg
      Pages 131-136

    5. A Multicenter Italian Study on Prader-Willi Syndrome

      • G. B. Pozzan, F. Cerutti, A. Corrias, C. Maffeis, G. Tonini, M. De Simone et al.
      Pages 137-145

    6. A Comparison of Characteristics in 33 Japanese and 83 American Patients with Prader-Willi Syndrome

      • Jeanne M. Hanchett, Nobutake Matsuo, Toshiro Nagai, Norio Niikawa, Hidefumi Tonoki
      Pages 147-151

  6. Clinical Aspects of Prader-Willi Syndromes Endocrine Studies

    1. Endocrine Physiology and Therapy in Prader-Willi Syndrome

      • E. Martin Ritzén, Per Bolme, Kerstin Hall
      Pages 153-169

    2. Growth Hormone Evaluation and Treatment in Prader-Willi Syndrome

      • Moris Angulo, Mariano Castro-Magana, John Uy, Warren Rosenfeld
      Pages 171-174
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Keywords

About this book

Although Prader-Willi syndrome was first described 35 years ago, it was following detection of an interstitial chromosome 15q deletion in some affected patients ten years ago that it became a major focus of multidisciplinary scientific interest. This interest was compounded by the later determination that some patients with a clinically distinct disorder, Angelman syndrome, apparently also had the same chromosome 15q deletion. Subsequently, molecular genetic studies showed that some cytogenetically normal patients with both disorders have uniparental disomy, maternal in Prader-Willi syndrome and paternal in Angelman syndrome. Genetic imprinting has been implicated in this unusual phenomenon. This Workshop was conceived to bring together clinical and basic scientists from around the world whose research was focused on unraveling this unique genetic situation and further delineating these two fascinating disorders. As this volume demonstrates, it was successful in reaching this goal. Laboratory and clinical scientists from 15 countries in four continents participated, and even more countries were represented among the professional and parent observers of its proceedings. Many participants had previously known each other in print only. As a consequence of the Workshop, conclusions could be drawn on several issues. International collaborative research efforts were established. And acquaintances were developed between people who investigate the genetics of these disorders from differing perspectives, resulting in enrichment of approach to answering the complex questions posed by these fascinating conditions. Plans were initiated for another such scientific workshop a few years hence. This volume includes papers presented from the platform.

Editors and Affiliations

  • College of Medicine, Section of Genetics/Dysmorphology, University of Arizona, Tucson, USA

    Suzanne B. Cassidy

Bibliographic Information

  • Book Title: Prader-Willi Syndrome

  • Book Subtitle: and Other Chromosome 15q Deletion Disorders

  • Editors: Suzanne B. Cassidy

  • Series Title: Nato ASI Subseries H:

  • DOI: https://doi.org/10.1007/978-3-642-84283-2

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer-Verlag Berlin Heidelberg 1992

  • Softcover ISBN: 978-3-642-84285-6Published: 12 February 2012

  • eBook ISBN: 978-3-642-84283-2Published: 29 June 2013

  • Series ISSN: 1010-8793

  • Edition Number: 1

  • Number of Pages: XII, 265

  • Topics: Pathology, Cell Biology, Human Genetics

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