Turner 综合症嵌合体核型及其生育情况 - 第三军医大学学报.DOC

Turner综合征嵌合体的临床表现和产前诊断的研究 胡 华，姚 宏，胡 斌，龙 洋，徐 刚，董艳玲，胡华梅，梁志清（第三军医大学西南医院妇产科）目的 通过对Turner综合征嵌合体核型分析、临床症状、生育状况的研究，探索Turner综合征嵌合体核型与的关系，及对后期的影响。 方法 收集2005年至2011Turner综合征嵌合体核型病例，采用常规染色体G带技术、核型分析等方法综合分析Turner综合征嵌合体染色体核型，同时通过妇科超、妇科检查、性激素检查、生育状况调查等方法研究Turner综合征嵌合体患者临床表现，Turner综合征嵌合体核型的关系。结果 Turner综合征嵌合体Turner综合征嵌合体。 结论 Turner综合征嵌合体的临床因异常核型所占比例而，，但少数患者出现临床表现与异常核型所占比例不一致 [关键词 Turner综合征；嵌合体；核型The study on clinic syndrome and prenatal diagnosis of 45, X mosaicism Hua Hu， Hong Yao， Bing Hu， Yang Long， Gang Xu， Yanling Dong， HuaMei Hu， Zhiqing LiangCenter for Prenatal Diagnosis， The Department of Obstetric and Gynecology， Southwestern Hospital， Third Military Medical University， ChongQing，400038，ChinaAbstract] objective Studying on mosaic karyotype analysis, clinic syndrome, procreation and prenatal diagnosis we search the relationship between Turner syndrome mosaic karyotype and clinic syndrome and the effect on the procreation, prenatal diagnosis and pregnancy outcome. Method Collecting 27 Turner syndrome mosaicism patients whose mean age were 16.62?.33 on the center of prenatal diagnosis pfrom July, 2005 to September, 2011 we analysis the karyotype by chromosome G-band, the clinic syndromes by ultrasound, gynecologic examination, sex hormone, procreation and pregnancy outcome by prenatal diagnosis so that search the relationship between karyotype and clinic syndrome, prenatal diagnosis and pregnancy outcome. Result The gonadal hormone and chondrotropic hormone of 45,X mosaicism were lower than normal lever. Among 27 patients there were two who had potential generandi but congenital dysplastic fetus. Among four Turner syndrome fetuses there were 3 birth defects induced abortion and there were 1 normal fetus. Conclusion The clinic syndrome of Turner syndrome with mosaic karyotype may relate to the percent of abnormal karyotype. The more proportion is abnormal karyotype the more severe is clinic syndrome but there are a few cases on which are discordant between clinic syndrome an