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目的探讨SRY阳性的46,XX男性综合征患者的临床及细胞分子遗传学特征。方法分析2例46,XX(SRY+)男性综合征患者的临床特点,通过患者染色体核型分析、多重连接探针扩增(MLPA)、荧光原位杂交(FISH)技术,进行Y染色体微缺失的细胞和分子遗传学检测。结果 2例患者社会性别均为男性,染色体核型均为46,XX,Y染色体微缺失检测示AZF a,b,c区域均缺失,SRY基因均存在。结论 SRY基因是参与性别决定和分化的关键基因,对其进行检测有利于明确性反转综合征的临床诊断,细胞、分子遗传学研究为性发育异常患者的临床确诊和治疗提供了依据。
Objective To investigate the clinical and cytogenetic characteristics of SRY positive 46 and XX male patients. Methods The clinical features of 2 cases of 46, XX (SRY +) males syndrome were analyzed. The patients with Y chromosome microdeletions were analyzed by karyotype analysis, MLPA and FISH Cell and Molecular Genetics Testing. Results The two sexes were male and the chromosome karyotypes were both 46 and XX. The detection of Y chromosome microdeletion showed that the a, b and c regions of AZF were all missing and the SRY genes were all present. Conclusion The SRY gene is a key gene involved in sex determination and differentiation. Detection of this gene is helpful for the clinical diagnosis of reversible reversal syndrome. Cell and molecular genetics provide a basis for the clinical diagnosis and treatment of sexual dysplasia.