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Prader–Willi Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

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Prader–Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting from uniparental disomy. The incidence of Prader–Willi syndrome is approximately 1/10,000–1/15,000 individuals.

Genetics/Basic Defects

  1. 1.

    Inheritance

    1. a.

      Usually sporadic events (de novo deletions of 15q11–q13)

    2. b.

      Rare familial transmission (balanced translocations involving 15q11–q13) (<1%)

  2. 2.

    A contiguous gene syndrome involving multiple paternally expressed genes

  3. 3.

    Caused by the lack of expression of normally active paternally inherited genes at chromosome 15q11–q13 because of a phenomenon called genomic imprinting

    1. a.

      The relevant region on chromosome 15q11–q13: normally expressed on the...

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Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Prader–Willi Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_196

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