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目的探讨性分化与发育异常的细胞与分子机理,并为临床提供明确的诊断。方法对性分化与发育异常36例患者外周血淋巴细胞进行常规染色体培养的同时行SRY基因检测。结果36例患者中Turners 12例,SRY+10例,SRY-2例;单纯女性性腺发育不良7例,SRY+5例,SRY-2例;47,XXY综合征3例,SRY+2例,SRY-1例;单纯睾丸发育不全(46,XY)7例SRY+5例,SRY-2例;两性畸形7例,其中男性尿道下裂4例,SRY+;46,XX男性化1例SRY-;46,XY女性化2例SRY+。结论SRY基因是性分化与发育的重要基因,SRY基因检测对性分化与发育异常患者可以提供临床鉴别诊断。
Objective To investigate the cellular and molecular mechanisms of sexual differentiation and dysplasia and to provide a clear diagnosis for clinical practice. Methods Thirty - six patients with abnormal differentiation and dysplasia were tested for SRY gene expression by routine chromosome culture in peripheral blood lymphocytes. RESULTS: Turners were 12, SRY + 10 and SRY-2 in 36 patients. There were 7 cases of pure female gonadal dysplasia, 5 cases of SRY, 2 cases of SRY, 3 cases of 47 and XXY syndrome, 2 cases of SRY, SRY-1 cases; 7 cases of simple testicular hypoplasia (46, XY) SRY + 5 cases, SRY-2 cases; 7 cases of genital malformations, including male hypospadia in 4 cases, SRY +; 46, ; 46, XY feminization of 2 cases of SRY +. Conclusion SRY gene is an important gene for sexual differentiation and development. SRY gene detection can provide clinical differential diagnosis for patients with sexual differentiation and dysplasia.