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Prader-Willi syndrome: Difference between revisions
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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) | '''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<ref>[http://www.ijpeonline.com/content/pdf/1687-9856-2013-14.pdf Endocrine manifestations and management of Prader-Willi syndrome]</ref>. It was first described in 1956 by [[Andrea Prader]] (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916–1994). | ||
==Links== | |||
[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 | |||
[[File:Buecher_Regal_636.jpg|92px]] | |||
[[nl:Syndroom van Prader-Willi]] | |||
{{disease|Q87.1|Prader-Willi syndrome}} | |||
{{wikidata|Q59401}} | |||
{{refs}} | |||
[[Category:Medicine]] | |||
Latest revision as of 00:41, 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
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