Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is a rare genetic condition first described in 1956 in Switzerland by Andrea Prader, Alexis Labhart, and Heinrich Willi. PWS is the most common genetic cause of life-threatening obesity in children, with an estimated incidence of 1 in 15,000 births. PWS occurs equally in males and females and in all races worldwide.

PWS appears sporadically rather than being inherited in a Mendelian pattern (i.e., single-gene transmission with four predictable patterns of inheritance). The condition is caused by the absence or inactivation of genes in a specific region (q11e13) of the long arm of the 15th chromosome inherited from the father. If the inherited 15th chromosome from the mother is affected in this manner, the outcome is Angelman syndrome (an entirely different phenotype). ...

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