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Prader-Willi syndrome is disease that is present from birth (congenital). People with this condition are obese, have reduced muscle tone and mental ability, and have sex glands that produce little or no hormones.
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The rest of patients with this condition often have two copies of the mother's chromosome 15.
The genetic changes occur randomly. Patients usually do not have a family history of the condition.
Saitta SC, Ackai EH. Specific chromosome disorders in newborns. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 20.
McCandless SE; Committee on Genetics. Clinical report -- health supervision for children with Prader-Willi syndrome. Pediatrics. 2011; 127(1):195-204.
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