【摘要】 目的 探讨不同类型性染色体型性发育异常（DSD）患者的遗传学改变及临床意义。方法 选取西安交通大学第一附属医院356例性染色体型DSD患者进行G显带染色体分析，对其中18例45,X/46,XY嵌合体者进行Y染色体微缺失检测。结果356例染色体型DSD患者中，克氏综合征（KS）210例，Turner综合征（TS）124例，47,XYY综合征8例，47,XXX综合征8例，45,X/46,XY男性3例，Y染色体结构异常3例。18例45,X/46,XY患者中，3例存在微缺失，其中AZFc位点缺失2例，AZFa+b+c位点缺失1例。结论 染色体型DSD以克氏综合征最常见，其次为Turner综合征。对45,X/46,XY男性患者进行Y染色体微缺失检测，有助于明确病因和选择更优的辅助生殖技术方案，实现优生优育。更多还原

【Abstract】 Objective To investigate genetic changes of sex chromosomal disorders of sex development(DSDs) and their clinical significances. Methods 356 patients with sex chromosomal DSDs who were diagnosed in The First Affiliated Hospital of Xi’an Jiaotong University were selected and analyzed by using chromosome G banding analysis. Y-chromosome AZF microdeletion detection were performed on 18 patients with chromosome karyotypes of 45,X/46,XY mosaicism. Results Of 356 patients with sex chromosomal DSDs,210 patients were diagnosed as Klinefelter syndrome(KS)(58. 99%), 124 patients were diagnosed as Turner syndrome(TS)(34. 83%), 8patients were as 47,XYY syndrome and other 8 patients were as 47,XXX syndrome, 3 patients were as 45,X/46,XY with male phenotype and 3 patients had abnormality in Y chromosome structure. Of 18 patients with chromosome karyotypes of 45, X/46, XY mosaicism, 3 patients had microdeletion, including 2 cases of AZFc deletion and 1 case of AZFa+b+c deletion. Conclusion KS is the most common classification of sex chromosomal DSDs, followed by TS. For male patients with 45, X/46, XY mosaicism, Y-chromosome AZF microdeletion detection is useful to determine the etiology and choose an optimal assisted reproductive technique.更多还原