669例性征异常患者的细胞遗传学分析

目的　探讨性征异常患者的表现形式及染色体核型的改变。方法　采用常规染色体核型分析、B超、精液检查及性激素测定。结果　 6 6 9例患者染色体分析发现 2 4例 46 ,XY女性表型患者 ,其中有 3对为两姐妹 ,1例 46 ,XX ,1例 45 ,X男性表型患者 ,12 7例染色体核型异常 ,检出异常发现率为 18 98%。结论　性染色体的改变是性征异常的重要原因之一 ,细胞遗传学染色体核型分析是诊断性征异常有效的利于开展的实验检查 ,为临床诊断及治疗两性畸形提供了有力的科学依据

Cytogenetic chromosome karyotypic analysis of 669 cases with abnormal sexual appearance

s: Objective: To discuss about the relationship between abnormal sexual appearance and chromosome abnormal karyotype. Method: All the cases were undertaken karyotypic analysis, B-ultrasonic examination,semen examination and sexual hormone determination. Result: Of 669 cases of karyotypic analysis,24 cases of karyotype of 46,XY show female phenotype,and 3 of them were sisters. A case of 46,XX and a case of 45,X show male phenotype.127cases show karyotypic abnormal.Positive findings rate were 18.98%. Conclusion: Sexual chromosome abnormality was one of important causes of abnormal sexual appearance.Cytogenetic chromosome karyotypic analysis was a efficient and convenience examination to diagnosis of abnormal sexual appearance,which could provide an important basis for clinic diagnosis and therapy.