Prader-Willi Syndrome

Presents current knowledge of the Prader-Willi and Angelman Syndromes, two human chromosome disorders associated with mental retardation. Emphasis is placed on work with molecular genetics, including genetic imprinting, cytogenetics, recurrence risk determination and epidemiology.

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Presented here is current knowledge of the Prader-Willi and Angelman Syndromes, two human chromosome disorders associated with mental retardation and other features. These two clinically dissimiliar 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.