56例染色体异常核型与疾病关系分析——附6例世界首报染色体异常核型  

Clinical analysis of 56 cases of the chromosomal abnormalities karyotype——Attaches 6 Examples of chromosome abnormal nuclear type of the first report in the world

作　　者：冯杏琳 申华 邵慧娟 刘丹 罗素霞 董瑞丽 葛瑶 

机构地区：[1]河南省开封市妇产医院医学遗传科,开封475000

出　　处：《中国优生与遗传杂志》2016年第4期65-66,43,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨人类染色体异常与疾病的关系,并进行临床分析。方法 2014年1月—12月,对421例有不良孕产史、不孕不育症、习惯性流产、生育畸形、死胎、死产、智力低下、表型异常、有遗传病家族史等前来就诊和咨询者进行细胞遗传学检查。取受检者肝素抗凝外周血,无菌条件下进行淋巴细胞培养,G显带,计数30个分裂相,分析核型3个,异常者加倍分析。必要时行C和R显带分析。结果 421例染色体检查中,染色体异常56例,染色体异常检出率为13.30%。其中常染色体异常52例,占92.86%;性染色体异常4例,占7.14%;经中国医学遗传中心鉴定,世界首报染色体异常核型6例,占染色体异常的10.71%。结论染色体核型分析可有效检出染色体病携带者,降低人群发病率,对于我们明确病因、干预、再次妊娠进行生育指导、治疗及预后十分必要。Objective：Discusses the human chromosome abnormal with disease′s relations,and carries on clinical analysis. Methods：During the research from January to December 2014,we have carried 421 patients coming to get medical examinations on cytogenetic,bad pregnancy history,and infertility,and having inheritance sickness family history,etc. Under the aseptic condition,taking the heparin preventing clotting the circumference blood to carry on the lymphocyte raise,G belt revelation,carrying on the analysis of the chromosome nuclear type,counting 30 fissions,analyzing 3 nuclear types and the abnormal doubles the analysis. When necessity requires C and R belt revelation are applied. Results：During the check on 421 patients chromosome,we discover 56 examples of unusual chromosome.Chromosome unusual picking-out rate is 13.30%. Among them,the chromosome unusual are 52 examples,occupying the unusual to be 92.86%;the sex chromosome unusual are 4 examples,which occupy unusual to be 7.14%. After appraisal of medical heritage center of China,chromosomes unusual nuclear types of the first report in the world are 6 examples which occupy the chromosome unusual to be 10.71%. Conclusions：Chromosome analysis of nuclear type could check out effectively chromosome disease carriers,reduce the rate of disease,and clear about the cause of disease. It is useful for the intervention regarding the pregnancy to carry on the birth,the instruction,the treatment and the prognosis.

关 键 词：染色体异常核型 不良孕产史 智力障碍 病因学 临床分析 

分 类 号：R394[医药卫生—医学遗传学]