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The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome

Journal of the Korean Pediatric Society 2000;43(3):360-364.
Published online March 15, 2000.
The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome
Young Ho Yang1, Duk Hee Kim2, So Chung Chung2, Yong Seok Sohn3, Mee Sun Kim4
1Department of Obstetrics and Gynecology, Division of Prenatal Genetic Clinic, The Institute of Genetic Science, College of Medicine, Yonsei University, Seoul, Korea
2Department of Pediatrics, College of Medicine, Yonsei University, Seoul, Korea
3Department of Obstetrics and Gynecology, College of Medicine, Yonsei University, Seoul, Korea
4Division of Prenatal Genetic Clinic, College of Medicine, Yonsei University, Seoul, Korea
Prader-Willi Syndrome의 진단에 있어 형광결합보체법(FISH)의 유용성
양영호1, 김덕희2, 정소정2, 손용석3, 김미순4
1연세대학교 의과대학 산부인과학교실, 산전유전크리닉, 유전과학 연구소
2연세대학교 의과대학 소아과학교실
3연세대학교 의과대학 산부인과학교실
4연세대학교 의과대학 산전유전크리닉
Abstract
Purpose
: To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome.
Methods
: Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome clinically and lymphocytes from peripheral blood sampling were cultured. G-banding microscope was used to detect the microdeletion in chromosome 15 and FISH with SNRPN probe was used to detect signal defect in band q11-q13 in chromosome 15.
Results
: There was a fluorescent signal defect in band 15 q11-q13 in one of chromosome 15 in 4 children with FISH method and only one patient was diagnosed with Prader-Willi syndrome with G-banding microscope.
Conclusion
: FISH analysis is more accurate, objective, and time saving than G-banding microscope, therefore it can be considered as a more adequate screening test for the diagnosis of Prader-Willi syndrome.
Key Words: FISH, G-banding microscope, Prader-Willi syndrome


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