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对闭经病人进行细胞遗传学检查已日益受到重视,国内有关报道也日趋增多。我科在对闭经病人作细胞遗传学检查中,发现异常核型29例,并就核型对表型的影响加以讨论。材料与方法1.病人全部来自我科内分泌门诊。对全部原发闭经病人及部分继发闭经病人进行细胞遗传学检查,大部分病人测定血清FSH 水平,少数做了腹腔镜和卵巢活组织检查。2.染色体核型检查取外周血淋巴细胞培养,G分带染色。各计数30～100个分裂相,镜下分析至少3个细胞核型。3.X 染色质以口腔粘膜上皮细胞,碱性复红染色,计数200个细胞中的染色质百分数。临床资料与结果原发闭经47例,发现异常核型25例,发生率53.2%;继发闭经112例,异常核型4例,发生率3.6%。29例异常核型见表1。
Amenorrhea patients for cytogenetics has received increasing attention, the domestic reports are also increasing. Our department in the amenorrhea patients for cytogenetic examination found abnormal karyotype in 29 cases, and karyotype on the phenotype to be discussed. Materials and methods 1. All patients from our department endocrine clinic. All primary amenorrhea patients and some secondary amenorrhea patients for cytogenetic examination, the majority of patients measured serum FSH levels, a small number of laparoscopic and ovarian biopsy. 2. Chromosome karyotype take peripheral blood lymphocyte culture, G-banding staining. Each count 30 to 100 split phase, microscopic analysis of at least 3 cell karyotype. 3. X Chromatin in oral mucosal epithelial cells, alkaline complex red staining, counting the percentage of chromatin in 200 cells. Clinical data and results 47 cases of primary amenorrhea, abnormal karyotype found in 25 cases, the incidence rate of 53.2%; 112 cases of secondary amenorrhea, abnormal karyotype in 4 cases, the incidence rate of 3.6%. 29 cases of abnormal karyotype in Table 1.