| Systematic review of the clinical and genetic aspects of Prader-Willi syndrome. | |
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MedLine Citation:
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PMID: 21503198 Owner: NLM Status: PubMed-not-MEDLINE |
Abstract/OtherAbstract:
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Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS. |
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Authors:
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Dong Kyu Jin |
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Publication Detail:
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Type: Journal Article Date: 2011-02-28 |
Journal Detail:
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Title: Korean journal of pediatrics Volume: 54 ISSN: 2092-7258 ISO Abbreviation: Korean J Pediatr Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-04-19 Completed Date: 2011-07-14 Revised Date: 2011-07-28 |
Medline Journal Info:
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Nlm Unique ID: 101215374 Medline TA: Korean J Pediatr Country: Korea (South) |
Other Details:
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Languages: eng Pagination: 55-63 Citation Subset: - |
Affiliation:
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Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. |
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