论文部分内容阅读
目的 :探讨表型女性伴月经异常、细胞遗传学检查存在 Y染色体的患者染色体组型与临床表现的关系。方法 :对月经异常患者抽血行染色体组型检查 ,采用 G显带分析或常规染色体分析。结果 :发现 3 0例患者含 Y染色体 ,其组型分别为 2 5例 4 6,XY,3例 4 6,XX/ 4 6,XY及 2例 4 5 ,X/ 4 6,XY。 4 6,XY组型中 16例表现为睾丸女性化综合征 ,7例单纯性 XY性腺发育不全 ,1例卵巢早衰 ,1例混合性性腺发育不全 ;4 6,XX/ 4 6,XY组型中 1例真两性畸形 ,2例性腺发育不全 ;组型为 4 5 ,X/ 4 6,XY的 2例患者 ,表现类似特纳 ( Turner)综合征。结论 :含 Y染色体、表型女性伴月经异常的患者 ,临床表现多数为原发性闭经 ,个别为继发性闭经。真两性畸形患者 ,可有周期性月经。患者的诊断取决于临床表现、染色体组型分析、手术或腹腔镜检查所见。
Objective: To investigate the relationship between phenotype female with menstrual abnormality and cytogenetics in patients with chromosomal constitution and clinical manifestations of Y chromosome. Methods: The patients with menstrual abnormalities were examined by chromosomal typing and analyzed by G-banding or routine chromosome analysis. Results: 30 patients were found to have Y chromosome, with 25 cases of 46, XY, 3 cases of 46, XX / 46, XY and 2 cases of 45, X / 46, XY respectively. 16, XY group of 16 cases showed testicular feminization syndrome, 7 cases of simple XY gonadal dysgenesis, 1 case of premature ovarian failure, 1 case of mixed gonadal dysgenesis; 4 6, XX / 4 6, XY group 1 case of true hermaphroditism, 2 cases of gonadal hypoplasia; group type 4 5, X / 4 6, XY of 2 patients, the performance of similar Turner syndrome. Conclusion: Patients with Y chromosome and phenotypic female with abnormal menstruation have the most clinical manifestations of primary amenorrhea and some are secondary amenorrhea. True gender deformity patients, there may be periodic menstruation. The diagnosis of a patient depends on clinical manifestations, genotyping, surgery or laparoscopy.