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Prader-Willi syndrome: Difference between revisions
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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 | 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 | ||
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[[nl:Syndroom van Prader-Willi]] | [[nl:Syndroom van Prader-Willi]] | ||
Revision as of 00:37, 2 September 2019
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[1]. It was first described in 1956 by Andrea Prader (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916–1994).
Links
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 Learning by observation and learning by doing in Prader-Willi syndrome Journal of Neurodevelopmental Disorders 7:6
