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Korean J Pediatr 2011 February;54(2) :55-63.
Systematic review of the clinical and genetic aspects of Prader-Willi syndrome
Dong Kyu Jin (Jin DK)
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Corresponding Author: Dong Kyu Jin ,Tel: +82.2-3410-3525, Fax: +82.2-3410-0043, Email:
Copyright © 2011 by The Korean Pediatric Society
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.
Keywords: Prader-Willi syndrome | Genetics | Clinical manifestations | Growth hormone treatment
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Supplementary Material  Supplementary Material
Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome  2002 September;45(9)
Clinical Characteristics of Williams Syndrome  2001 April;44(4)
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