论文部分内容阅读
目的探讨宜昌地区遗传咨询者外周血染色体异常核型出现的类型、发生率及与临床疾病的关系。方法对本地区1038例遗传咨询者,抽取外周血,培养淋巴细胞,G显带,进行染色体核型分析。结果在1038例的遗传咨询者中有92例染色体核型异常,异常率为8.86%(92/1038)。其中,常染色体数目异常13例,占异常核型的14.13%(13/92);常染色体结构异常共60例,占异常核型的65.22%(60/92),其中,平衡易位2例,占异常核型的2.17%(2/92),罗伯逊易位2例,占异常核型的2.17%(2/92);染色体多态最多,共56例,占异常核型的60.87%(56/92),此外,性染色体数目异常共13例,占异常核型的14.13%(13/92)。其中,47,XXY 6例,47,XYY 1例,46,X0 1例,嵌合体5例;性染色体结构异常共4例;性反转1例:46,XX(表型为男性)。结论宜昌地区遗传咨询者中染色体核型异常检出率较高,主要为常染色体数目和结构异常,性染色体数目和结构异常次之,这些染色体异常与智力低下、先天畸形、不孕不育、不良孕产等临床症状有密切关系。
Objective To investigate the types, incidence and relationship of karyotypes in peripheral blood of genetic counselors in Yichang with clinical diseases. Methods A total of 1038 cases of genetic counseling in this area were collected from peripheral blood, cultured lymphocytes and G - banding for chromosome karyotype analysis. Results Among the 1038 cases of genetic counseling, 92 cases had chromosomal abnormalities, the rate of abnormality was 8.86% (92/1038). Among them, the number of an autosomal abnormalities in 13 cases, accounting for 14.13% (13/92) of abnormal karyotype; autosomal abnormalities in 60 cases, accounting for 65.22% (60/92) abnormal karyotype, of which 2 cases of balanced translocation , Accounting for 2.17% (2/92) of abnormal karyotype and 2 cases of Robertson’s translocation accounting for 2.17% (2/92) of abnormal karyotype. The chromosome polymorphism was the highest in 56 cases, accounting for 60.87% of the abnormal karyotype 56/92). In addition, there were 13 cases of abnormal sex chromosomes, accounting for 14.13% (13/92) of abnormal karyotypes. 47 cases, 47 cases of XYY, 1 case of XYY, 46 cases of XO, 5 cases of chimerism, 4 cases of sex chromosome abnormalities, and 1 cases of sexual inversion: 46 cases of XX (phenotype of male). Conclusion The detection rate of chromosome karyotype abnormality in genetic counselors in Yichang is higher than that in Yichang area, mainly including the number of autosomal chromosomes and structural abnormalities, the number of chromosomal abnormalities and the structural abnormalities. These chromosomal abnormalities are associated with mental retardation, congenital malformations, infertility, Bad pregnancy and other clinical symptoms are closely related.