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터너 증후군에서 FISH (fluorescence in situ hybridization) 법을 이용한 숨겨진 Y 염색체의 존재 유무 및 표적 염색체의 기원 규명

Other Titles
 Hidden Y Chromosome and Marker Chromosome Identification by FISH (Fluorescence in Situ Hybridization) in Turner Syndrome 
 신종승  ;  양은석  ;  양영호  ;  권자영  ;  한상원 
 Korean Journal of Obstetrics and Gynecology (대한산부인과학회잡지), Vol.47(5) : 829-833, 2004 
Journal Title
Korean Journal of Obstetrics and Gynecology(대한산부인과학회잡지)
Issue Date
Turner syndrome ; Marker chromosome ; Hidden Y chromosome ; FISH
Objective: To assess the effectiveness of hidden Y chromosome and marker chromosome identification by FISH (Fluorescence in Situ Hybridization) in Turner syndrome.

Methods: Data was collected retrospectively from 25 patients with or without marker chromosome confirmed Turner syndrome by chromosomal study in Department of Obstetrics and Gynecology, Yonsei University Medical Center. FISH was performed on all patients for hidden Y chromosome and marker chromosome identification.

Results: FISH showed the origin of marker chromosome in 9 patients whose karyotypes were 45,X/ 46,X+mar, 5 patients were positive for SRY gene. Of 16 patients whose karyotypes were 45,X or 45,X/46,XX, there was no hidden Y chromosome indentification by FISH.

Conclusion: FISH for marker chromosome identification in Turner syndrome is a rapid and effective procedure. But to enable widespread use of hidden Y chromosome identification by FISH in Turner syndrome, further studies involving many cases are warranted.
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1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Urology (비뇨의학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ja Young(권자영) ORCID logo https://orcid.org/0000-0003-3009-6325
Shin, Jong Seung(신종승)
Yang, Young Ho(양영호)
Han, Sang Won(한상원) ORCID logo https://orcid.org/0000-0003-0941-1300
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