What causes Prader-Willi syndrome (PWS)?

Updated: Oct 14, 2020
  • Author: Ann Scheimann, MD, MBA; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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  • Prader-Willi syndrome is due to the loss of the paternal copy of chromosome 15q11.2-13. [5]

  • Most cases of Prader-Willi syndrome are sporadic. More than 70% of patients have a deletion of the paternal copy; approximately 25% of patients with Prader-Willi syndrome have maternal uniparental disomy in chromosome 15. The remainder of patients with this disorder have a translocation or other structural alteration in chromosome 15.

  • Most manifestations of Prader-Willi syndrome are attributable to hypothalamic dysfunction.

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