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目的探讨性腺发育不全患者的遗传学病因。方法对3例性腺发育不全患者行常规的G显带分析和SRY基因检测。结果 2例患者的染色体核型分别为45,X和46,XY的嵌合体;1例患者染色体核型为46,XY。三者的SRY基因检测均为阳性。结论 (1)45,X/46,XY的嵌合型染色体核型形成原因可能是Y染色体结构存在异常致使染色体不稳定发生丢失,因而产生了45,X细胞系。(2)3例患者的SRY基因检测均为阳性的细胞学基础可能是X/Y异常交换与基因突变所致。
Objective To investigate the genetics of patients with gonadal dysgenesis. Methods Three cases of gonadal dysgenesis patients underwent routine G-banding analysis and SRY gene detection. Results The chromosomal karyotypes of two patients were 45, X and 46, XY chimeras, respectively. One patient had chromosome karyotype of 46 and XY. The three SRY gene tests were positive. Conclusion (1) 45, X / 46, XY chimeric chromosome karyotype may be due to the Y chromosome structure abnormalities resulting in the loss of chromosome instability, resulting in 45, X cell lines. (2) Cytological basis of 3 cases of positive SRY gene test may be due to X / Y abnormal exchange and gene mutation.