期刊文献+

一对单纯性XY型性腺发育不全的单卵双生子

Pure XY gonadal dysgenesis and agenesis in monozygotic twins
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摘要 Objective: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. Design: Case report. Setting: University tertiary hospital. Patient(s): Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. Intervention(s): Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy. Main Outcome Measure(s): Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other. Result(s): Dysgerminoma and atrophic ovarian stromal and tubal structures. Conclusion(s): Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically. Objective: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. Design: Case report. Setting: University tertiary hospital. Patient(s): Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. Intervention(s): Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy. Main Outcome Measure(s): Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other. Result(s): Dysgerminoma and atrophic ovarian stromal and tubal structures. Conclusion(s): Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically.
作者 李跃萍
出处 《世界核心医学期刊文摘(妇产科学分册)》 2006年第8期38-38,共1页 Core Journal in Obstetrics/Gynecology
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