北海地区73例Turner综合征患者细胞遗传学分析

Cytogenetic analysis of 73 cases of Turner syndrome patients

目的研究Turner综合征与细胞染色体异常之间的关系。方法采用外周血淋巴细胞培养,G显带技术染色体核型分析技术对73例Turner综合征患者进行核型分析。结果 73例Turner综合征患者的临床表型复杂,核型各异。其中以X单体型、嵌合型为主,还有X缺失型等。结论 Turner综合征是临床上女性患者不孕不育、身材矮小等的重要病因,无有效的方法,及早确诊对该病的防治具有积极意义。

Objective： To evaluate Turner syndrome and the relationship between the cell chromosome abnormality. Methods： The peripheral blood lymphocyte culture and G banding karyotype analysis technology to karyotype analysis of 73 patients with Turner syndrome. Results： 73 cases of patients with Turner syndrome clinical phenotype is complex, different karyotype. Which is given priority to with X haplotype, chimeric type, there is lack of X type, etc. Conclusion： Women with Turner syndrome is clinically important cause infertility, short stature, etc, there is no effective method of early diagnosis of the disease prevention and control has positive significance.