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양측성 잠복고환과 당뇨를 동반한 Prader-Willi 증후군 1예

Other Titles
 A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus 
Authors
 Mi Jin Kim  ;  Myung Suk Shim  ;  Young Goo Shin  ;  Choon Hee Chung  ;  Hyun Sook Jung  ;  Sang Ha Kim  ;  Sang Jin Yoon  ;  Ki Woong Jang  ;  In Young Jang  ;  Byong Jun Lee  ;  Young Ho Yang  ;  Sung Jin Kim 
Citation
 Korean Journal of Medicine (대한내과학회지), Vol.63(4) : 426-430, 2002 
Journal Title
Korean Journal of Medicine(대한내과학회지)
ISSN
 1738-9364 
Issue Date
2002
Keywords
Prader-Willi Syndrome ; Fluoresence in situ hybridization
Abstract
Prader-Willi syndrome (PWS) is a complex, multisystem disorder comprising congenital hypotonia,
feeding difficulties, hypogonadism and hypogenitalism, short stature, small hands and feet, mental
and psychomotor retardation, distinctive facial appearance, onset of obesity in early childhood and a
tendency to develop glucose intolerance in adolescence. Yet the syndrome remains difficult to
diagnose due to the subtle nature of many of the manifestations. We report an 19-year old man with
PWS, confirmed by fluorescence in situ hybridization (FISH) with DNA probes specific for the PWS
region on chromosome 15
Files in This Item:
T200202466.pdf Download
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Yoon, Sang Jin(윤상진)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/143460
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