Prader–Willi Syndrome

Reference work entry

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...

Keywords

Obesity Depression Estrogen Osteoporosis Testosterone 

References

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