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目的本文对2001年4月至2006年5月来我站遗传咨询的16147例外周血淋巴细胞染色体核型进行分析,探讨在出生缺陷干预应用中的意义。方法采用外周血淋巴细胞培养,常规制备染色体,应用G显带技术进行核型分析。结果检出异常核型161例,异常率占0.99%。其中常染色体结构异常86例,占53.42%;常染色体数目异常11例,占6.83%;性染色体数目异常20例,占12.42%;染色体多态性变异44例,占27.33%。异常核型涉及1、2、3、4、5、6、7、8、9、10、11、13、14、15、16、21、22、X及Y共19条。结论所查染色体核型异常者,大多无明显表型反应,但生育后代为患儿的风险率增高,调研数据可为预防染色体病患儿出生提供参考资料。
Objective To analyze the chromosomal karyotypes of 16,147 peripheral blood lymphocytes from April 2001 to May 2006 in genetic counseling to explore the significance of intervention in the application of birth defects. Methods Peripheral blood lymphocytes were cultured and chromosomes were routinely prepared. K - banding technique was used to analyze the karyotype. Results 161 cases of abnormal karyotype detected, the abnormal rate of 0.99%. There were 86 cases with autosomal abnormalities (53.42%), 11 cases with autosomal abnormalities (6.83%), 20 cases with abnormal sex chromosomes (12.42%), and 44 cases with chromosome aberration (27.33%). Abnormal karyotype involving 1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,21,22, X and Y, a total of 19. Conclusion Most of the karyotypes were abnormal, but there was no obvious phenotype reaction. However, the risk of developing children was higher than that of children. The survey data could provide references for preventing the birth of children with chromosome disease.