原发闭经患者的染色体核型分析

目的 :分析原发闭经患者染色体核型 ,探讨性染色体异常对性腺发育及表型的影响。方法 :82例原发闭经每例行外周血培养 ,细胞收获 ,制片及G显带 ,并行染色体核型分析。结果 :原发闭经患者发现性染色体异常 32例 ,异常检出率为40 .2 % (33/ 82 )。性染色体异常大体上分 3大类 :含Y染色体 (15例 ) ;X染色体数目异常 (14例 ) ;X染色体结构异常 (4例 )。嵌合体均以 45 ,X系为主 ,共有 8例。结论 :两条完整的染色体是女性性腺发育及正常卵巢功能所必须 :Xp2 1缺失可引起身材矮小 ;性染色体异常是原发闭经的主要原因之一 ,原发闭经患者常规细胞遗传学检查是必要的

Cytogenetic studies in patients with primary amenorrhea

The To analyze the chromosomal karyotypes of women with primary amenorrhea, to discuss the aetiological tole of sex chromosomal abnormalities in these amenorrheic women. Method:Peripheral blood was culutured, harved, and G banded in 82 women with primary amenorrhea,and their chromosomal karyotypes were analyzed. Results:we found an abnormal karyotype in 33 cases out of 82 patients with primary amenorrhea(40.2%). The chromosome aberrations can be broadly classified into 3 main types, namely, presence of a Y chromosome(15cases), X-chromosome aneuploidies (14 cases), structural anomalies of the X-chromosome (4 cases). Mosaics constituted of the abnormalities observed always in association with a 45,X cell line. Conclusion: Two perfect X chromosomes is necessary for female gonadal dysgenesis and function of ovary. Sex chromosome aberrations is one of main factors of primary amenorrhea, routine cytogenetical examination is needed in the patients with primary amenorrhea.