性染色体结构与数目异常与女性闭经关系探讨  

Recurrent spontaneous abortion,chromosome karyotype analysis of peripheral blood,Chromosomal polymorphism,Chromosomal translocation

作　　者：王笑盈 王茹敏 WANG Xiao-ying;WANG Ru-min(Obstetrics Department of the First People＇s Hospital of Yongkang,Yongkang city,Yongkang,Zhejiang Province,321300)

机构地区：[1]永康市第一人民医院产科,浙江永康321300

出　　处：《中国优生与遗传杂志》2018年第10期69-70,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨闭经女性患者性染色体的异常类型及临床意义。方法选取2012年1月～2017年6月在我院妇产科门诊就诊的428例女性闭经遗传咨询者,年龄为18岁～34岁,其中原发性闭经患者84例,继发性闭经患者344例,进行外周血淋巴细胞培养、G显带和染色体核型分析。结果 428例闭经女性患者进行了临床病理体征及染色体核型分析检查,其中检出性染色体核型异常者64例;其中X染色体数目异常和数目异常嵌合体35例(54.69%),X染色体结构异常和结构异常嵌合体25例(39.06%),含Y染色体46,XY 2例(3.13%),X染色体-常染色体易位2例(3.13%),发现的异常临床表型有原发性闭经、继发性闭经、身材矮小、乳房未发育、外阴幼稚、子宫卵巢未发育等。结论性染色体异常是女性闭经发病的重要病因,对此类患者应常规进行染色体核型分析。Objective：To investigate the genotype and clinical significance of sex chromosome in amenorrhea women. Methods：A total of 428 female amenorrhea genetic counselors from January 2012 to June 2017 in our obstetrics and gynecology clinic were enrolled. The age ranged from 18 to 34 years. Among them,84 were primary amenorrhea patients,344 cases of peripheral blood lymphocyte culture,G banding and karyotype analysis. Results：A total of 428 cases of amenorrhea women were examined with clinicopathological features and chromosomal karyotype analysis. Among them,64 cases were detected abnormality of karyotype,including 35 cases（54.69%）with X chromosome number abnormality and abnormal number,X chromosome structure There were 25 cases（39.06%）with aberrant and structural abnormalities chimeras,including Y chromosome 46,XY 2 cases（3.13%）and X chromosome-autosomal translocation in 2 cases（3.13%）. The abnormal clinical phenotypes were found to be primary amenorrhea,Secondary amenorrhea,short stature,undeveloped breasts,vulva vulva,undeveloped uterus ovary and so on. Conclusions：Sexual chromosomal abnormalities are an important cause of amenorrhea in women. Chromosomal karyotype analysis should be conducted routinely in these patients.

关 键 词：闭经 性染色体 外周血染色体核型分析 性发育异常 

分 类 号：R596.1[医药卫生—内科学]