Prader-Willi syndrome (abbreviated PWS) is a very rare genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleting or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland. The incidence of PWS is between 1 in 10,000 and 1 in 15,000 live births. The distin...
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Prader-Willi syndrome (abbreviated PWS) is a very rare genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleting or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland. The incidence of PWS is between 1 in 10,000 and 1 in 15,000 live births. The distinction of chromosome by paternal origin is due to imprinting and PWS has the sister syndrome Angelman syndrome that affects maternally imprinted genes in the region.
PWS affects approximately 1 in 10,000 to 1 in 15,000 newborns. There are more than 400,000 people who live with PWS around the world. It is characterized by hypotonia, short stature, polyphagia, obesity, small hands and feet, hypogonadism, and mild mental retardation.
Traditionally, PWS was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic...
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