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Molecular Approaches to the Detection of Deletions and Uniparental Disomy in Prader-Willi and Angelman Syndromes

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Molecular Diagnosis of Genetic Diseases

Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 5))

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Abstract

The chromosomal region 15qll→ql3 exhibits one of the best characterized examples of genomic imprinting in humans in that biparental inheritance of this region is essential for normal development. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurogenetic disorders caused by the loss of function of the paternal (PWS) or maternal (AS) contribution of closely apposed genes within 15q11→q13.

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© 1996 Humana Press Inc, Totowa, NJ

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Harvey, J.F., Crolla, J.A. (1996). Molecular Approaches to the Detection of Deletions and Uniparental Disomy in Prader-Willi and Angelman Syndromes. In: Elles, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine™, vol 5. Humana Press. https://doi.org/10.1385/0-89603-346-5:219

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  • DOI: https://doi.org/10.1385/0-89603-346-5:219

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-346-7

  • Online ISBN: 978-1-59259-589-1

  • eBook Packages: Springer Protocols

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