Turner综合征嵌合体的临床表现和产前诊断的研究  

Clinical manifestation and prenatal diagnosis of Turner's syndrome mosaicism 45,X

作　　者：胡华[1] 姚宏[1] 胡斌[1] 龙洋[1] 徐刚[1] 董艳玲[1] 胡华梅[1] 梁志清[1] 

机构地区：[1]第三军医大学西南医院妇产科,产前诊断中心,重庆400038

出　　处：《第三军医大学学报》2012年第2期102-105,共4页Journal of Third Military Medical University

摘　　要：目的通过对Turner综合征嵌合体核型、临床症状、生育状况、产前诊断的研究,探索Turner综合征嵌合体核型与临床表现的关系及对后期生育状况、产前诊断、妊娠结局的影响。方法收集本中心2005年7月至2011年9月通过临床症状和核型结果诊断为Turner综合征嵌合体核型病例27例(12～29岁)以及产前诊断为Turner综合征嵌合体胎儿5例。采用常规染色体G显带技术、核型分析等方法综合分析Turner综合征嵌合体染色体核型,同时通过妇科彩超、妇科检查、性激素检查、生育状况、产前诊断等方法研究Turner综合征嵌合体患者临床表现和产前诊断结局,探讨Turner综合征嵌合体核型与临床表现、产前诊断、妊娠结局的关系。结果 Turner综合征嵌合体患者性激素和生长激素平均值低于正常水平,27例患者仅2例患者具有生育能力,并均出生了发育异常的胎儿。5例Turner综合征嵌合体胎儿中4例胎儿发育异常而引产,1例发育正常继续妊娠。结论 Turner综合征嵌合体患者的临床表现和严重程度因异常核型所占比例而存在差异,异常核型比例越高临床症状越严重,但极少数患者出现临床表现与异常核型所占比例不一致。其妊娠结局与胎儿异常细胞比例、胎儿系统彩超结果有关。Objective To identify the relationship between Turner syndrome mosaic karyotype and clinical manifestations, and the effect on the procreation, prenatal diagnosis and pregnancy outcome by studying mosaic karyotype analysis, clinical signs and symptoms, procreation and prenatal diagnosis in Turner syndrome. Methods A total of 27 Turner syndrome mosaicism patients whose age were 12 to 19 in the Center of Prenatal Diagnosis from July 2005 to September 2011 were enrolled in these study. Another 5 Turner syndrome fetuses found in prenatal diagnosis with health mothers were also collected. Their karyotype was analyzed by karyotype analysis and chromosome G-band. The clinical manifestations were studied by gynecological ultrasonography and examination, sex hormone, procreation and pregnancy outcome by prenatal diagnosis. The relationship among their karyotype and clinical signs and symptoms, prenatal diagnosis and pregnancy outcome was investigated. Results The gonadal hormone and growth hormone of 45, X mosaicism were lower than normal levels. Among 27 patients, there were only 2 having potential generandi but congenital dysplastic fetus. Among 5 Turner syn- drome fetuses, there were 4 induced abortion due to birth defects and 1 growing normally and given a birth. Conclusion The clinical manifestations and severity of Turner syndrome is related to the percentage of abnor- mal karyotype. The larger the percentage is, the more severe the manifestations are. But few cases may disobey to this law. When the fetus are 45, X mosaicism during prenatal diagnosis, the pregnancy outcome is related to percentage of abnormal karyotype and fetal system ultrasound results.

关 键 词：TURNER综合征 嵌合体 产前诊断 核型 

分 类 号：R596.1[医药卫生—内科学] R714.55[医药卫生—临床医学]