Journal of the Korean Pediatric Society 2002;45(9):1126-1133.
Published online September 15, 2002.
Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome
Ji Eun Lee1, Kwang Bin Moon2, Jong Hee Hwang2, Eun Kyung Kwon2, Sun Hee Kim3, Jong Won Kim3, Dong Kyu Jin2
1Department of Pediatrics, College of Medicine, Inha University, Inchon, Korea
2Department of Pediatrics, College of Medicine, Sungkyunkwan University, Seoul, Korea
3Department of Clinical Pathology, College of Medicine, College of Medicine, Sungkyunkwan University, Seoul, Korea
Prader-Willi 증후군의 임상 양상 및 유전학적 진단에 관한 고찰
이지은1, 문광빈2, 황종희2, 권은경2, 김선희3, 김종원3, 진동규2
1인하대학교 의과대학 소아과학교실
2성균관대학교 의과대학 소아과학교실
3성균관대학교 의과대학 임상병리학교실
Dong Kyu Jin, Email:
: Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment.
: We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region.
: The average birth weight of PWS patients was 2.67?.47 kg and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings.
: We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.
Key Words: Prader-Willi syndrome, Clinical feature, Genetic analysis

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