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1例46,XX,男性性反转综合征新生儿病例报告及文献回顾 被引量:6

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摘要 46,XX,男性性反转综合征(46,XX,male sex reversal syndrome)是一类性别分化异常导致的罕见疾病.患者染色体核型为46,XX,但性腺为睾丸,第二性征男性表型,体内也没有子宫、输卵管及卵巢.虽有男性表型,但因缺乏正常Y染色体,患者可表现为无精及不同程度的性腺发育不全,如幼稚阴茎、尿道下裂.
出处 《中国产前诊断杂志(电子版)》 2018年第2期36-39,共4页 Chinese Journal of Prenatal Diagnosis(Electronic Version)
基金 135科技部重点项目(2016YFC1000208-4)
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