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성선 이형성 환자 혈액 및 성선 조직에서 Y염색체 모자이시즘의 진단

DC FieldValueLanguage
dc.contributor.author김세광-
dc.contributor.author배상욱-
dc.date.accessioned2019-11-26T01:21:17Z-
dc.date.available2019-11-26T01:21:17Z-
dc.date.issued1999-
dc.identifier.issn1226-2951-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/172945-
dc.description.abstractObjective: The presence of Y chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y material in these patients. But sometimes it is difficult to detect Y material only with karyotyping. This study was performed to evaluate the usefulness of the SRY gene screening in blood and gonad by using PCR in detecting the presence of Y material and possible tissue mosaicism in patients with gonadal dysgenesis as Turner syndrome and 46,XY pure gonadal dysgenesis ( PGD, Swyer syndrome). Method: In 26 patients with gonadal dysgenesis, we screened for Y material by using PCR for SRY gene in peripheral leukocytes and in gonadal tissues of some patients. They were 22 cases of Turner syndrome (7 45,XO, 2 46,Xi(Xq), 3 45,XO/46,XX, 5 45,XO/46,Xi(Xq), 1 45,XO/46,XY, 1 45,XO/46,Xi(Yq), 1 45,XO/47,XYY, 1 46,XX,del(X)(q24) and 1 46,X,+mar) and 4 cases of 46,XY pure gonadal dysgenesis. PCR for SRY gene in the gonadal tissue was performed in 5 Turner syndrome and 2 PGD to determine the cryptic Y mosaicism between blood and gonad. Results: By using PCR analysis for SRY, Y chromosome material was detected in the blood of 4 of 22 Turner syndrome patients (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY, and 45,XO/47,XYY), 3 of 4 46,XY pure gonadal dysgenesis. Discrepancy between karyotyping and blood PCR for SRY was noted in 1 Turner syndrome (45,XO/46,Xi(Xq)) and 1 PGD. Laparoscopic gonadectomy was performed in Y containing or SRY positive cases. In addition, PCR analysis for SRY in the gonads of 5 Turner syndrome and 2 PGD showed discrepancy between blood and gonad or between both gonads in 3 Turner syndrome (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY) and 2 PGD patients. Conclusion: In gonadal dysgenesis, PCR analysis for SRY gene is useful to detect the cryptic Y mosaicism that is sometimes undetected by karyotyping. And since there may be tissue mosaicism, it is necessary to evaluate Y mosaicism in various tissues even in the case without Y chromosome on karyotyping.-
dc.description.statementOfResponsibilityopen-
dc.languageKorean-
dc.publisher대한불임학회-
dc.relation.isPartOfKorean Journal of the Fertility and Sterility-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.title성선 이형성 환자 혈액 및 성선 조직에서 Y염색체 모자이시즘의 진단-
dc.title.alternativeDetection of Y mosaicism in gonadal dysgenesis-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Obstetrics and Gynecology (산부인과학교실)-
dc.contributor.googleauthor김진영-
dc.contributor.googleauthor이상준-
dc.contributor.googleauthor박기현-
dc.contributor.googleauthor김정연-
dc.contributor.googleauthor배상욱-
dc.contributor.googleauthor이병석-
dc.contributor.googleauthor김세광-
dc.contributor.googleauthor김인규-
dc.contributor.googleauthor조동제-
dc.contributor.googleauthor송찬호-
dc.contributor.googleauthor김재욱-
dc.contributor.googleauthor이호준-
dc.contributor.localIdA00601-
dc.contributor.localIdA01793-
dc.contributor.localIdA01793-
dc.relation.journalcodeJ02009-
dc.subject.keywordY-Mosaicism-
dc.subject.keywordGonadal dysgenesis-
dc.subject.keywordSRY gene-
dc.subject.keywordPCR-
dc.contributor.alternativeNameKim, Sei Kwang-
dc.contributor.affiliatedAuthor김세광-
dc.contributor.affiliatedAuthor배상욱-
dc.contributor.affiliatedAuthor배상욱-
dc.citation.volume26-
dc.citation.number3-
dc.citation.startPage457-
dc.citation.endPage465-
dc.identifier.bibliographicCitationKorean Journal of the Fertility and Sterility, Vol.26(3) : 457-465, 1999-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers

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