北京地区78例性染色体异常患者的细胞遗传学分析

目的探讨78例性染色体异常患者的临床表现并进行细胞遗传学分析。方法对患者外周血淋巴细胞行染色体常规G显带核型分析。结果 78例性染色体异常核型中,性染色体数目异常51例,占异常核型的65.38%;性染色体结构异常12例,占15.39%;Y染色体形态异常11例,占14.10%;另外还有性反转综合征4例,占5.13%。结论性染色体异常可导致性分化异常或生殖异常、智力低下等遗传效应,对患者进行染色体的检查,将有助于临床诊断和治疗。

Cytogenetic analysis of 78 cases of sex chromosomal abnormalities.

Objective： To investigate 78 cases of sex chromosome abnormalities in patients with cytogenetic analysis. Methods： Chromosomal karyotypes were examined in patients by periphery blood lymphocyte culture and carried out G banding. Results ： Of all the 78 cases of sex chromosome we examined, 51 cases are in the mutant type; while 12 cases are found to be structural abnormalities; 11 cases were diagnosised to be Y chromosome abnormal patterns. Furthermore, we found 4 species were sex revresal; accounting for 65.38% ; 15.39% ; 14. 10% and 5.13%, respectively. Conclusion： Sex chromosome abnormalities can lead to abnormal sexual dif- ferentiation or reproductive abnormalities, mental retardation and other genetic effects, chromosome examination of the patients will contribute to the clinical diagnosis and treatment.