性别异常的染色体组型分析

Analysis of karotypes for intersex

为了进一步探讨性别异常发生的机制及染色体组型与表型性别的相关性 ,对 33例性别异常病人的染色体组型和临床资料进行分析。结果表明 :46XY男性假两性畸形占 5 7 5 7% ,46XX女性假两性畸形为 18 18% ,真两性畸形的组型有12 12 % ,其他组型为 12 12 %。含Y染色体组型的病人 88 8%可以找到睾丸 ,但 73 6 8%的病人表现为女性社会性别。性染色体与社会性别的相符率为 42 82 %。还发现 2例男性假两性畸形其性染色体正常 ,但常染色体分别为臂间倒位及 13和 14号染色体间的易位时 ,也可以导致性别异常。结论 :性染色体决定着性腺分化的方向 ,但成熟的性腺和正常的性别发育还需除性染色体之外的多条染色体、多个基因的参与。

To study the pathogenesis of intersex,33 cases who suffered from intersex were reported.46XY,46XX and other karotypes were 57 6%,18 18% and 24 24%,respectively.Although testis can be found in 88 8% of karotypes with Y chromosome,73 68% of patients were female social sex.42 8% of patients were correspond between the social sex and sexual chromosome.The abnormalities in 9,13 and 14 chromosomes resulted in intersex also.Conclusion:The sex chromosomes determine the aspect of gonads differentiation,besides many autosomes and genes participate in the development of normal gonads and sex. [WT5”HZ]