两条完整的X染色体对于女性的性腺发育及生育功能是必要的,X染色体的各种畸变或缺失部会出现不同程度的性腺发育不全。本文报告两例少见的嵌合型Turner综合征。例1 女,29岁,已婚,因原发性闭经及不孕就诊。患者系第4胎,孕8个月早产,外表未见异常。出生时父29岁,母27岁,非近亲婚配。兄、弟、妹均表型 Two complete X chromosomes are necessary for gonadal development and fertility in women. Various aberrations or deletions in the X chromosome can lead to different degrees of gonadal dysgenesis. This article reports two rare chimeric Turner syndromes. Example 1 Female, 29 years old, married, due to primary amenorrhea and infertility treatment. The patient’s fourth child, 8 months pregnant premature birth, no abnormal appearance. 29 years old at birth, 27 years old mother, non-relatives marriage. Brother, brother, sister are phenotype