【摘要】 目的:分析与不孕不育患者染色体核型,为临床不孕不育症的预防及治疗提供参考。方法:采集743例不孕不育患者的外周血常规进行淋巴细胞培养,G显带,必要时配合C显带、N显带,进行染色体核型分析。结果:743例就诊患者中,共检测出异常染色体核型140例,检出率为18.84%。其中染色体多态115例,占异常核型的82.14%(115/140);染色体易位9例,占异常核型的6.43%(9/140);特纳综合征6例[其中包括45,X 1例,嵌合体4例,46,X,del(X)(p11)1例],占异常核型的4.29%(6/140);克氏征3例,占异常核型的2.14%(3/140);染色体插入患者2例,占异常核型的1.43%(2/140);21-三体综合征2例,占异常核型的1.43%(2/140);超雌综合征1例,占异常核型的0.71%(1/140);雄激素不敏感综合征1例,占异常核型的0.71%(1/140)。其中有1例为世界首报核型,8例为国内首报核型。结论:染色体异常是导致不孕不育的重要因素,在不孕不育症患者中进行染色体核型分析具有重要意义。更多还原

【Abstract】 Objective:To explore the relationship between chromosome abnormalities and infertility,in order to provide evidence for the prevention and treatment of clinical infertility.Methods:Peripheral blood lymphocytes from 743 cases of infertile patients were cultured,and chromosome karyotype was examined by showing chromosome bands using G analysis combined with C and N analysis.Results:A total of 743 patients were tested in the study,140 patients detected with abnormal chromosome karyotype,the detection rate was 18.84%.Among them,there were 115 cases of chromosome polymorphism,accounting for 82.14% of the abnormal karyotype(115/140);9 cases of chromosomal translocation,accounting for 6.43% of the abnormal karyotype(9/140);6 cases of Turner syndrome(including 45,X,one case;chimaera,4 cases;46,X,del(X)(P11),one case),accounting for 4.29% of the abnormal karyotype(6/140);3 cases of Klinefelter syndrome,accounting for 2.14% of the abnormal karyotype(3/140);2 cases of chromosome insertion,accounting for 1.43% of the abnormal karyotype(2/140);2 cases of trisomy 21 syndrome,accounting for 1.43% of the abnormal karyotype(2/140);1 case of super-female syndrome,accounting for 0.71% of the abnormal karyotype(1/140);1 case of androgen-insensitivity syndrome,accounting for 0.71% of abnormal karyotype(1/140).Generally,one case was first reported in the world,and 8 cases were first reported in China.Conclusions:Chromosome abnormality is an important factor that leads to infertility.It is important to carry out the analysis of karyotype in infertile patients.更多还原