Prader-Willi syndrome : and other chromosome 15q deletion disorders
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
NATO ASI series, vol. 61
Congress
1 online resource (xii, 265 pages) : illustrations
9783642842832, 9783540530954, 3642842836, 3540530959
862965443
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
"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."