【摘要】 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。更多还原

【Abstract】 Objective:To investigate the types and incidence of chromosomal abnormalities in the peripheral blood of consultants in Yichang and its relationship with clinical disease.Methods:1038 cases of consultants extract peripheral blood,lymphocyte culture,G-banding and karyotype analysis.Results:Among the 1038 cases of genetic counseling.92 cases had abnormal chromosome karyotype.The abnormality rate was 8.86%(92/1038).Among them,autosomal number abnormalities in 13 cases,accounting for 14.13%(13/92) of abnormal karyotype;autosomal structural abnormalities in 60 cases,accounting for 65.22%of abnormal karyotype(60/92),of which 2 cases of reciprocal translocation,Accounting for 2.17%(2/92)of the abnormal karyotype,2 cases of Robertsonian translocation,accounting for 2.17%(2/92) of the abnormal karyotype,56 cases of chromosome polymorphism,accounting for 60.87%of the abnormal karyotype(56/92).In addition,13 cases of sex chromosomal number abnormalities,accounting for 14.13%(13/92) of the abnormal karyotype.There were 6 cases of47,XXY,1 case of 47,XYY,1 case of 46,XO,5 cases of chimerism,4 cases of sex chromosome structure abnormality,1 case of sexual reversal,46.XX(phenotype male).Conclusion:The rate of chromosome karyotype abnormality is high for consultants in Yichang area,which is mainly the autosomal number and structural abnormality.The sex chromosome number and structural abnormality is the second.These chromosomal abnormalities are closely associated with mental retardation,congenital malformation,infertility,adverse pregnancy and other clinical symptoms.更多还原