广东清远地区1090例遗传咨询者细胞遗传学分析

Analysis on the cytogenetics in 1090 cases of genetic counseling in Qingyuan area,Guangdong

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 study the relationship between abnormal of chromosome of people of geneic counseling and diseases by analyzing the chromosomal karyotype in patients of genetic counseling.Methods：To collect peripheral blood samples.Chromosome specimens were made using routine culture of peripheral blood lymphocytes.The G-band technique was used in the cytogenetical analysis. Results：out of 1090 karyotype analyses of peripheral blood lymphocyte,168 individuals（15.41%）had chromosomal ab-normalities.Among them,26 cases（15.48%）were with ab-normal sex chromosome number,8 cases（4.76%）were with abnormal sex chromosome structure,3 cases（1.79%）were chimera,2 cases（1.19%）were sex reverse,22 cases（13.09%）were with abnormal euchromosome number,27 cases（16.07%）were with abnormal eu-chromosome structure and 80 cases（47.62%）were heteromorphism.Conclusion：Chromosome abnormality is a considerable reason for spontaneous abortion or stillbirth history primary,and hypophrenia,infertility,mental and sexual development abnormi-ty.Chromosomes detection is necessary for the genetic consultant.