Prader-Willi syndrome is due to errors in genomic imprinting involving the long arm of chromosome 15 leading to the loss of expression of paternally derived genes. These imprinted genes are present on the maternal chromosome 15 but are normally inactivated [ 21 ]. The most common event is a due to de novo paternal deletions of 5-6 Mb in size.. Prader-Willi Syndrome (PWS) En Español. PWS is the most common of the genetic disorders that cause life-threatening obesity in children. The syndrome affects many aspects of the person's life, including eating, behavior and mood, physical growth, and intellectual development.
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Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment.. Diagnosis &. treatment. Typically, doctors suspect Prader-Willi syndrome based on signs and symptoms. A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in your child's chromosomes that indicate Prader-Willi syndrome.
