| 46例Turner综合征患者临床特征及染色体分析 |
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| 引用本文： | 张璘,任梅宏,张晓红. 46例Turner综合征患者临床特征及染色体分析[J]. 中国妇产科临床杂志, 2010, 11(2): 128-130. DOI: 10.3969/j.issn.1672-1861.2010.02.014 |
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| 作者姓名： | 张璘 任梅宏 张晓红 |
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| 作者单位： | 北京大学人民医院产前诊断中心,100191 |
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| 摘 要： | 目的Turner综合征患者身材矮小伴不同程度的性腺发育不全,探讨Turner综合征不同核型的遗传学特征、临床特点及其所占比例。方法高龄或高危孕妇产前诊断及成人外周血染色体核型分析。结果产前诊断发现Turner综合征9例,成人外周血检测发现Turner综合征37例,46例患者中45,X25例(54.35%);45,X/46,XX嵌合型4例(8.70%);45,X/46,X,i(X)嵌合型3例(6.52%);46,X,i(X)2例(4.35%);46,XX,inv(X)2例(4.35%);46,XY7例(15.22%);45,X/46,XX/47,XXX嵌合型,46,XX,t(X;3)和45,X/46,XX,del(X)各1例,分别占2.17%。结论Turner综合征包括X染色体数目异常和结构畸变等多种核型,均可不同程度导致女性不孕、智力低下及其他器官功能异常,应提倡优生优育,做好产前诊断。
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| 关 键 词： | Turner综合征 染色体核型分析 产前诊断 |
Cytogenetic diagnosis study of 46 cases of Turner Syndrome |
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| ZHANG Lin,REN Meihong,ZHANG Xiaohong. Cytogenetic diagnosis study of 46 cases of Turner Syndrome[J]. Chinese Journal of Clinical Obstetrics and Gynecology, 2010, 11(2): 128-130. DOI: 10.3969/j.issn.1672-1861.2010.02.014 |
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| Authors: | ZHANG Lin REN Meihong ZHANG Xiaohong |
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| Affiliation: | Prenatal Diagnosis Center;People's Hospital Peking University;Beijing 100044;China |
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| Abstract: | Objective Turnet syndrome has various clinical manifestations of gonadal disgensis.To analyze the association between various chromosome karyotypes of Turner Syndrome and their clinic characteristics.Methods Mid-trimester amniocentesis was used to analyze fetal chromosomes in high-risk pregnant women. Adult blood drawing and culturing were used to analyze chromosomes in the patients.Results There were 9 cases of Turner Syndrome in the prenatal diagnostic samples and 37 cases of Turner Syndrome in adult samp... |
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| Keywords: | Turner Syndrome chromosome karyotypes prenatal diagnosis |
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