首页 | 本学科首页   官方微博 | 高级检索  
检索        

46例Turner综合征患者临床特征及染色体分析
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.
作者姓名:张璘  任梅宏  张晓红
作者单位:北京大学人民医院产前诊断中心,100191
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。

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
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.
Authors:ZHANG Lin  REN Meihong  ZHANG Xiaohong
Institution:Prenatal Diagnosis Center;People's Hospital Peking University;Beijing 100044;China
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...
Keywords:Turner Syndrome  chromosome karyotypes  prenatal diagnosis  
本文献已被 CNKI 维普 万方数据 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号