عنوان

Prader-Willi syndrome :

3540530959

3642842836

9783540530954

9783642842832

b574525

Prader-Willi syndrome :

[Book]

and other chromosome 15q deletion disorders

edited by Suzanne B. Cassidy, University of Arizona, College of Medicine, Section of Genetics/Dysmorphology, Tucson, Arizona 85724, USA.

Berlin

Springer-Verlag, [

1992] ©1992

(xii, 265 pages) : illustrations

NATO ASI series., Series H,, Cell biology ;, vol. 61.

Proceedings of the NATO Advanced Research Workshop on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders held at Noordwijkerhout, the Netherlands, from May 2-3 1991.

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.

The book presents the current knowledge on the Prader-Willi- and Angelman syndrome, two human chromosome disorders associated with mental retardation and other features. These two clinically dissimilar syndromes share unique genetics: in over half of the people with each of these disorders, the same deletion of the proximal long arm of chromosome 15 can be found. However, the deletion occurs in the paternally derived chromosome in Prader-Willi syndrome and in the maternally derived in Angelman syndrome. Emphasis is placed on the molecular genetics including genetic imprinting, recurrence risk determination, cytogenetics, and epidemiology of these disorders, as well as delineation of newly described clinical features.

Angelman syndrome -- Congresses.

Human chromosome 15 -- Abnormalities -- Congresses.

Prader-Willi syndrome -- Congresses.

edited by Suzanne B. Cassidy, University of Arizona, College of Medicine, Section of Genetics/Dysmorphology, Tucson, Arizona 85724, USA.

Suzanne B Cassidy

[Book]

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