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Prader-Willi Syndrome: and Other Chromosome 15q Deletion Disorders (Nato ASI Subseries H:, 61) by Suzanne B. Cassidy (auth.), Suzanne B. Cassidy (eds.) is a nonfiction available to read on EtoBox.

What is Prader-Willi Syndrome: and Other Chromosome 15q Deletion Disorders (Nato ASI Subseries H:, 61) about?

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 partici

Who reads Prader-Willi Syndrome: and Other Chromosome 15q Deletion Disorders (Nato ASI Subseries H:, 61)?

Author

Suzanne B. Cassidy (auth.), Suzanne B. Cassidy (eds.)

Publisher

Springer-Verlag Berlin Heidelberg

Published

1992

Language

EN

ISBN

9783540530954

Category

nonfiction

Subjects

Medical, Science, Biology