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南通地区5286例遗传咨询者外周血染色体研究 被引量:9

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摘要 目的探讨外周血染色体异常与临床疾病的关系,为优生优育、降低出生缺陷、提高人口素质服务。方法对5 286例前来该中心的遗传咨询者进行外周血G显带技术核型分析。结果 5 286例遗传咨询者外周血染色体标本共检出染色体异常137例(不包括大Y、小Y及其他染色体多态性),异常率2.59%。其中染色体数目异常81例,占异常核型59.12%;染色体结构异常56例(40.88%)。不同症状患者染色体异常的类型和比例各有不同。结论染色体核型异常是引起自然流产、原发闭经、原发不孕不育、两性畸形、胎儿畸形、死胎、新生儿畸形、智力低下等多种疾病和生殖障碍的重要原因之一。
出处 《检验医学与临床》 CAS 2016年第4期500-502,共3页 Laboratory Medicine and Clinic
基金 南通市社会事业科技创新与示范项目(HS2014083)
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