| 两性畸形六例细胞遗传学的分析 |
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| 引用本文： | 赵淑鑫,叶瑞禾,顾琳,延喜琴,张志谦.两性畸形六例细胞遗传学的分析[J].西安交通大学学报(医学版),1984(1). |
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| 作者姓名： | 赵淑鑫 叶瑞禾 顾琳 延喜琴 张志谦 |
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| 作者单位： | 西安医学院第二附属医院妇产科细胞遗传室，西安医学院第二附属医院妇产科细胞遗传室，西安医学院第二附属医院妇产科细胞遗传室，西安医学院第二附属医院妇产科细胞遗传室，西安医学院第二附属医院病理科 |
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| 摘 要： | <正> 性分化异常及酶的缺陷可导致两性畸形,细胞遗传学的检查有助于性别的鉴定及疾病的诊治。我院由1979年至1982年10月遗传咨询门诊中,有6例两性畸形患者检查了染色体核型,结果如下:
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The Cytogenetic Analysis of 6 Cases of Hermaphroditism |
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| Abstract: | This paper reports 2cases of true hermaphroditism, 3cases of testicular feminization and 1 case of congenital adrenal hyperplasia. True hermaphroditism was confirmed by operation. It was found that there were ovaries and testes or ovotestes in the abdomonal cavity. Chromosome karyotypes were seen to be 48,XX/48,xy or 46xy/47,xxy. The chromosome karyotypes of testieular feminization were 46, xy or 46, xy/47, xxy. Congenital adrenal hyperplasia was female hermaphroditism, chromosome karyotype being 46, xx. The elevated urinary 17-ektosteroid value was an important diagnostic finding(17-hydroxylate 6.6mg/24hours and 17-ketone 15mg/24 hours, which, after treatment with prednison, were decreased to 17 hydroxylate 4.3mg/24 hours and 17 ketone 1.1mg/24 hours). In addition to hormone treatment, surgery was used to correct the external genitalis. The aetiology, diagnosis and treatment are expounded. |
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