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• W4312864810 abstract "Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic condition characterized by infantile hypotonia with a poor suck and feeding difficulties leading to failure to thrive; hypogenitalism/hypogonadism; endocrine disturbances including growth and other hormone deficiencies; mild cognitive impairment with behavioral problems such as self-injury, compulsions, anxiety, and outbursts; and hyperphagia with morbid obesity in early childhood, if not externally controlled. PWS is thought to be the most common known cause of life-threatening obesity in humans affecting approximately 400,000 people worldwide and 1 in every 17,000–22,000 livebirths. Most cases are sporadic, but the cause is due to errors in genomic imprinting on chromosome 15, may often, as a paternally derived 15q11–q13 deletion followed by maternal disomy 15 (both 15s from the mother) or rarely a defect of the imprinting center controlling the activity of imprinted genes on chromosome 15. New genetic technology now identifies different subtypes of the 15q11–q13 deletion, subclasses of maternal disomy 15, and imprinting defects with different anomalies associated with severity of cognitive and behavioral findings and prognosis. Our chapter describes an overview of clinical, behavioral, and genetic findings seen in this disorder as well as diagnosis, treatment, and natural history with cited references beginning with an historical and genetic overview followed by clinical description and diagnosis with clinical stages, nutritional phases, and natural history with obesity and related problems. Other clinical findings described include cognition and behavior with associated genotype-phenotype relationships and conclusions. The information will be of interest to students, researchers, educators, health caregivers, and providers of patients and their families with PWS.KeywordsPrader-Willi syndromeGenomic imprintingPaternal 15q11–q13 deletionMaternal disomy 15Imprinting defectGenetics and laboratory testingNatural historyDiagnosis and prognosisClinical and behavioral findingsGenetic subtype-phenotype relationships" @default.
• W4312864810 created "2023-01-05" @default.
• W4312864810 creator A5045905377 @default.
• W4312864810 creator A5068460859 @default.
• W4312864810 date "2022-01-01" @default.
• W4312864810 modified "2023-09-27" @default.
• W4312864810 title "Clinical and Genetic Findings with Natural History of Prader-Willi Syndrome" @default.
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