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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) | |||
[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. | [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. | ||
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{{disease|Q87.1|Prader-Willi syndrome}} | {{disease|Q87.1|Prader-Willi syndrome}} | ||
<references/> | |||
[[Category:Medicine]] | [[Category:Medicine]] | ||
Revision as of 18:08, 30 July 2015
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)
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
Disease classification WHO
Q87.1 Prader-Willi syndrome
- ↑ [http://www.ijpeonline.com/content/pdf/1687-9856-2013-14.pdf Endocrine manifestations and management of Prader-Willi syndrome]