论文部分内容阅读
目的通过对遗传咨询者的染色体核型分析,探讨染色体异常与疾病的关系。方法取患者外周血进行培养,收获染色体,行G显带,显微镜下分析核型。结果 2011年到2014年9月来我院就诊的1090例遗传咨询者中检出异常核型168例,异常核型检出率为15.41%,其中性染色体数目异常26例,占15.48%;性染色体结构异常8例,占4.76%;嵌合体3例,占1.79%;性反转2例,占1.19%;常染色体数目异常22例,占13.09%;常染色体结构异常27例,占16.07%;多态性80例,占47.62%。其中性染色体异常39例,占23.21%;常染色体异常129例,占76.79%。结论染色体异常是导致反复流产、生育畸形儿、智力低下、性发育异常、不孕不育等的重要原因之一,对有以上临床症状的患者进行染色体检查十分必要,可为优生优育和产前诊断提供依据。
Objective To investigate the relationship between chromosomal abnormalities and diseases by analyzing the genetic karyotypes of genetic counselors. Methods The peripheral blood of patients was cultured, chromosomes were harvested, G banding was performed, and karyotypes were analyzed under a microscope. Results 168 cases of abnormal karyotype were detected in 1090 cases of genetic counseling who came to our hospital from 2011 to September 2014. The detection rate of abnormal karyotype was 15.41%, of which 26 cases were abnormal chromosome number, accounting for 15.48%. Chromosome structural abnormalities in 8 cases, accounting for 4.76%; chimerism in 3 cases, accounting for 1.79%; 2 cases of sexual inversion, accounting for 1.19%; autosomal abnormalities in 22 cases, accounting for 13.09%; autosomal abnormalities in 27 cases, accounting for 16.07% ; 80 cases of polymorphism, accounting for 47.62%. There were 39 cases of chromosomal abnormalities, accounting for 23.21%; 129 cases of autosomal abnormalities, accounting for 76.79%. Conclusions Chromosomal abnormalities are one of the most important causes of recurrent miscarriage, deformity, mental retardation, sexual dysplasia and infertility. Chromosomal examination of patients with the above clinical symptoms is very necessary and may be used for prenatal and postnatal care Provide the basis for diagnosis.