Prader-Willi syndrome: pathology

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Prader-Willi syndrome: pathology. Maternal disomy 15: this accounts for 20-30% of cases. Fully referenced neurology checklist.

Causative chromosomal mutations

  • Paternal 15q11-q13 deletion: this accounts for about 70% of cases
  • Maternal disomy 15: this accounts for 20-30% of cases
  • Imprinting center defects: these account for 1-3% of cases
  • Chromosomal translocation: this occurs occasionally

Pathology

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Associated disorders

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References

  1. Butler MG, Manzardo AM, Forster JL. Prader-Willi syndrome: clinical genetics and diagnostic aspects with treatment approaches. Curr Pediatr Rev 2016; 12:136-166. 
  2. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009; 17:3-13.
  3. Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38:1249-1263.
  4. Irizarry KA, Miller M, Freemark M, Haqq AM. Prader Willi syndrome: genetics, metabolomics, hormonal function, and new approaches to therapy. Adv Pediatr 2016; 63:47-77.
  5. McCarthy JM, McCann-Crosby BM, Rech ME, et al. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. J Med Genet 2018; 55:307-315.

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