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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<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). | '''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]]wlink (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. | ||
Revision as of 00:22, 12 September 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 Praderwlink (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