View source for Prader-Willi syndrome

'''Prader–Willi syndrome''' is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916–1994)

[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510909/ Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation] Mol Cytogenet. 2015; 8: 52.

Foti Francesca et al. 2015 [http://www.jneurodevdisorders.com/content/pdf/s11689-015-9102-0.pdf Learning by observation and learning by doing in Prader-Willi syndrome] Journal of Neurodevelopmental Disorders  7:6
[[nl:Syndroom van Prader-Willi]]

[[Category:Medicine]]