Prader-Willi Syndrome

and Other Chromosome 15q Deletion Disorders

  • Suzanne B. Cassidy
Conference proceedings

DOI: 10.1007/978-3-642-84283-2

Part of the NATO ASI Series book series (volume 61)

Table of contents (29 papers)

  1. Front Matter
    Pages I-XII
  2. Introduction and Overview of Prader-Willi Syndrome

  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. 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
    4. 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
  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. 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
    5. 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

About these proceedings

Introduction

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.

Keywords

Angelman Syndrom Angelman syndrome Chromosomen Chromosomendefekt Humangenetik Termination chromosome cytogenetics gene genes genetics human genetics molecular genetics mutation physiology

Editors and affiliations

  • Suzanne B. Cassidy
    • 1
  1. 1.College of Medicine, Section of Genetics/DysmorphologyUniversity of ArizonaTucsonUSA

Bibliographic information

  • Copyright Information Springer-Verlag Berlin Heidelberg 1992
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Springer Book Archive
  • Print ISBN 978-3-642-84285-6
  • Online ISBN 978-3-642-84283-2