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Prader-Willi syndrome: Difference between revisions
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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 | 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. | Mol Cytogenet. 2015; 8: 52. | ||
Foti Francesca et al. | |||
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 (2015) 7:6 | |||
Revision as of 18:48, 29 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. 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. 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 (2015) 7:6