【摘要】 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。方法抽取遗传咨询者外周血进行培养,收获染色体,G显带,显微镜下分析核型。结果 2009年到2011年来我院就诊的3782例遗传咨询者中检出异常核型345例,异常核型检出率为9.12%,其中性染色体异常91例,占27%;常染色体异常254例,占73%。结论染色体异常是导致性发育异常、智力低下、反复流产、生育畸形儿、不孕症等的重要原因之一,对有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。更多还原

【Abstract】 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: 345 cases of chromosome abnormalities(9.12%) were detected in 3782 genetic consultants.There were 91 sex chtomosome abnormalities(27%) and 254 autosomal abnormalities(73%) Conclusion: Chromosome abnormality is a considerable reason for primary or secondary amenorrhea,spontaneous abortion and stillbirth history,mental and sexual development abnormity.Chromosomes detection is necessary for the genetic consultant.更多还原