Prader-Willi syndrome: pathology
Evidence-based neurology checklist on prader-willi syndrome: pathology: 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…
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
Associated disorders
References
- Butler MG, Manzardo AM, Forster JL. Prader-Willi syndrome: clinical genetics and diagnostic aspects with treatment approaches. Curr Pediatr Rev 2016; 12:136-166.
- Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009; 17:3-13.
- Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38:1249-1263.
- 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.
- 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.
