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Nato ASI Subseries H:

Prader-Willi Syndrome

and Other Chromosome 15q Deletion Disorders

Editors: Cassidy, Suzanne (Ed.)

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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.

Table of contents (29 chapters)

Table of contents (29 chapters)
  • Introduction and Overview of Prader-Willi Syndrome

    Pages 1-11

    Cassidy, Suzanne B.

  • Microdissection and Molecular Analysis of Proximal 15q

    Pages 13-16

    Buiting, Karin (et al.)

  • The Irregular Inheritance of Angelman Syndrome and Prader-Willi Syndrome

    Pages 17-26

    Pembrey, Marcus E. (et al.)

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

    Pages 27-32

    Gregory, C. A. (et al.)

  • Possible Genomic Imprinting at the Angelman Syndrome Gene Locus

    Pages 33-40

    Niikawa, Norio (et al.)

Buy this book

eBook $119.00
price for USA in USD
  • ISBN 978-3-642-84283-2
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $159.00
price for USA in USD
  • ISBN 978-3-642-84285-6
  • Free shipping for individuals worldwide
  • Immediate ebook access, if available*, with your print order
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Prader-Willi Syndrome
Book Subtitle
and Other Chromosome 15q Deletion Disorders
Editors
  • Suzanne Cassidy
Series Title
Nato ASI Subseries H:
Series Volume
61
Copyright
1992
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-84283-2
DOI
10.1007/978-3-642-84283-2
Softcover ISBN
978-3-642-84285-6
Series ISSN
1010-8793
Edition Number
1
Number of Pages
XII, 265
Topics

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