108例Turner综合征患者细胞遗传学分析

Cytogenetic analysis of 108 cases of Turner syndrome patients

目的通过对遗传咨询者的染色体检测结果分析,探讨Turner综合征的临床意义。方法 2012年1月1日至2015年8月31日,在我院遗传门诊、妇产科和儿科门诊等11 816例遗传咨询者,抽取外周血,行G显带染色体核型分析。结果11 816例遗传咨询者共计检测出108例Turner综合征,患者临床表型复杂,核型各异。其中X单体型,29例;嵌合型,36例;X染色体结构异常,25例;以及含Y染色体核型,18例。结论 Turner综合征是女性患者不孕不育、身材矮小等的重要病因,且携带者染色体核型各异,及时确诊可对该病的具有积极的防治意义。

Objective：To analyze the chromosome detection results of genetic counselors,and explore the clinical significance of Turner syndrome. Methods：From January 1,2012 to August 31,2015,in our genetic clinics,obstetrics and gynecology and pediatrics clinics,etc. 11816 cases of genetic counselors,peripheral blood,the line of G banding karyotype analysis. Results：11816 cases of genetic counselors,a total of 108 cases detected Turner syndrome patients clinical phenotype is complex,different karyotype. Where X haplotype,29 cases;Chimeric type,36 cases;The X chromosome structural abnormalities,25 cases;As well as containing Y chromosome karyotype,18 cases. Conclusion：Women with Turner syndrome is important causes of infertility,short stature,etc,and different carriers chromosome karyotype,timely diagnosis of the disease can have positive significance for the prevention and cure.