鲍明升, 程双怀, 梁玉华, 黄银久. 性反转综合征的细胞遗传学1例分析[J]. 蚌埠医科大学学报, 2004, 29(4): 289-290,308.
    引用本文: 鲍明升, 程双怀, 梁玉华, 黄银久. 性反转综合征的细胞遗传学1例分析[J]. 蚌埠医科大学学报, 2004, 29(4): 289-290,308.
    BAO Ming-sheng, CHENG Shuang-huai, LIANG Yu-hua, HUANG Yin-jiu. Cytogenetics of sex reverse syndrome: Case repart[J]. Journal of Bengbu Medical University, 2004, 29(4): 289-290,308.
    Citation: BAO Ming-sheng, CHENG Shuang-huai, LIANG Yu-hua, HUANG Yin-jiu. Cytogenetics of sex reverse syndrome: Case repart[J]. Journal of Bengbu Medical University, 2004, 29(4): 289-290,308.

    性反转综合征的细胞遗传学1例分析

    Cytogenetics of sex reverse syndrome: Case repart

    • 摘要: 目的: 探讨性反转综合征发病的可能原因。方法: 运用人类外周血淋巴细胞常规染色体核型并结合相关文献资料进行分析。结果: 分析30个中期分裂相,核型均为46,XY。结论: 该女性患者为46,XY男性性反转综合征;SRY基因的突变或缺失以及SOX基因的突变是导致性反转综合征的主要原因。

       

      Abstract: Objective: To analyze the possible causes of sex reverse syndrome of one female patient.Methods: Human pheripheral blood lymphocytes culture for chromosome and karyotype analysis technique were used to research into the female patient's karyotype.Results: Thirty metaphase mitotic figures were studied and the female patient's karyotype was 46,XY.Conclusions: This female patient has 46,XY male reverse syndrome;the mutation of SRY and SOX or SRY's deletion are the main causes of sex reverse syndrome.

       

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