What is prada willie syndrome?
What is Prader-Willi Syndrome? A disorder of chromosome 15 Prevalence: 1:12,000- 15,000 (both sexes, all races) Major characteristics: hypotonia, hypogonadism, hyperphagia, cognitive impairment, difficult behaviors Major medical concern: morbid obesity Cause and Diagnosis of PWS The genetic cause is loss of yet unidentified genes normally contributed by the father. Occurs from three main genetic errors: Approximately 70% of cases have a non-inherited deletion in the paternally contributed chromosome 15; approximately 25% have maternal uniparental disomy (UPD)—two maternal 15s and no paternal chromosome 15; and 2–5 % have an error in the “imprinting” process that renders the paternal contribution nonfunctional. Diagnostic testing: Individuals who have a number of the clinical findings should be referred for genetic testing. DNA methylation analysis confirms diagnosis of PWS. FISH and DNA techniques can identify the specific genetic cause and associated recurrence risk. (See ASHG/ACMG Re
