Prader-Willi Syndrome: And Other Chromosome 15q Deletion Disorders

ISBN-13: 9783642842856 / Angielski / Miękka / 2012 / 265 str.

Suzanne B. Cassidy

Opis

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.

Spis treści

and Overview of Prader-Willi Syndrome.- Molecular Genetics of Prader-Willi and Angelman Syndromes.- Microdissection and Molecular Analysis of Proximal 15q.- The Irregular Inheritance of Angelman Syndrome and Prader-Willi Syndrome.- Characterization of cDNA Clones Corresponding to Genomic Loci Rearranged in Patients with Prader-Willi Syndrome.- Possible Genomic Imprinting at the Angelman Syndrome Gene Locus.- Molecular Analysis in Angelman Syndrome, Prader-Willi Syndrome and Potential Mouse Models.- Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients.- Cytogenetics of Prader-Willi and Angelman Syndromes.- Cytogenetic Comparison between Prader-Willi and Angelman Syndromes.- Mosaicism for Deletion 15q11q13 in Sporadic and Familial Cases.- Prader-Willi Syndrome and Angelman Syndrome in Two Female Cousins as a Result of a Familial Translocation.- Implications for the Recurrence Risk in the Prader-Willi Syndrome on the Basis of Proposed Genomic Imprinting.- Clinical Aspects of Prader-Willi Syndrome: National Studies.- Diagnostic Criteria for Prader-Willi Syndrome.- An Australian Collaborative Study of Prader-Willi Syndrome Individuals and Their Families.- A Family Focused Care Model for Prader-Willi Syndrome in Norway: The Frambu Experience.- Prader-Willi Syndrome in Norway: An Epidemiological and Sociomedical Study.- A Multicenter Italian Study on Prader-Willi Syndrome.- A Comparison of Characteristics in 33 Japanese and 83 American Patients with Prader-Willi Syndrome.- Clinical Aspects of Prader-Willi Syndrome: Endocrine Studies.- Endocrine Physiology and Therapy in Prader-Willi Syndrome.- Growth Hormone Evaluation and Treatment in Prader-Willi Syndrome.- Diminished 24 Hour Urinary Growth Hormone Excretion in Patients with Prader-Willi Syndrome.- Clinical Aspects of Prader-Willi Syndrome: Physical Characteristics.- Energy Expenditure in the Prader-Willi Syndrome.- Antero-Posterior Cephalometric Analysis of the Craniofacial Complex in the Prader-Willi Syndrome.- Scoliosis and its Treatment in the Prader-Willi Syndrome.- Psychol0gical and Behavioral Aspects of Prader-Willi Syndrome.- Psychological Profile and Behavioral Characteristics in the Prader-Willi Syndrome.- The Use of Psychotropic Medications in Persons with Prader-Willi Syndrome.- Clinical Aspects of Angelman Syndrome.- Angelman Syndrome in the Adolescent and Young Adult.- Clinical Findings in Individuais with Angelman Syndrome without a Molecular Deletion or Uniparental Disomy.- Genetic Counseling for Angelman Syndrome When the Proband Has a Cytogenetic or Molecular Deletion.- Panel Discussion.- Current Understanding and Recurrence Risks of Prader-Willi and Angelman Syndromes.