原发性闭经女性染色体核型与临床表型关系探讨

Women with primary amenorrhea and chromosome karyotype and clinical phenotype relation

目的探讨原发性闭经女性患者的染色体异常与临床表型的关系。方法对我院2011年以来276例原发性闭经女性患者进行外周血染色体核型分析。结果 276例原发性闭经患者(年龄在14岁-18岁),进行了临床病理体征及染色体核型分析检查,其中检出核型异常者68例;其中46,XX核型208例(75.36%),X染色体数目异常45例(16.30),X染色体结构异常21例(7.61%),X染色体数目及结构均异常2例(0.72%),发现有7种异常临床表型,身材矮小54例(79.41%),发际低26例(38.24%),有颈蹼者12例(17.65%),乳房未发育58例(85.29%),肘外翻16例(23.53%),无腋毛、阴毛42例(61.76%),外阴幼稚型46例(67.65%)。结论原发性闭经女性患者的X染色体核型异常与患者临床表型有关。

Objective：Discussion of chromosome abnormality in women with primary amenorrhea and the relationship between clinical phenotype. Methods：In our hospital since 2011,276 cases of women with primary amenorrhea for peripheral blood chromosome karyotype analysis. Results：276 patients with primary amenorrhea（aged 14 to 18 years old）,the clinical signs and pathological and karyotype analysis,detection of karyotype was abnormal in 68;Of 46,XX karyotype in 208 cases（75.36%）,X chromosome aneuploidy 45 cases（16.30）,X chromosome structural abnormalities 21 cases（7.61%）,X chromosome number and structure of anomaly in 2 cases（0.72%）,found that there are seven kinds of abnormal clinical phenotype,diminutive 54 cases（79.41%）,hair low 26 cases（38.24%）,12 cases with webbed neck（17.65%）,breast underdeveloped 58 cases（85.29%）,was 16 cases（23.53%）,42 cases（61.76%）,no armpit hair,pubic hair vulva infantilism 46 cases（67.65%）. Conclusion：Women with primary amenorrhea in the X chromosome karyotype abnormalities related to clinical phenotype.