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河北邯郸发现罕见人类染色体异常核型 为世界首报--亲稳舆论引导监测室
2013-01-26

  中新网邯郸1月25日电(马继前 张雪恩)河北省邯郸市妇幼保健院25日透露,该院发现的罕见人类染色体异常核型,经中国权威机构鉴定,为世界首次发现。

Beijing on January 25, handan(The horse before the ZhangXueEn)Hebei handan city maternal and child care service centre 25 revealed,The hospital found that rare human chromosome abnormal karyotype,The China authority appraisal,For the world's first found.

  据邯郸市妇幼保健院优生遗传科主任陈慧英介绍,此染色体异常核型是在为一名不孕症患者检查时被发现。该名患者多次妊娠,可均在怀孕50天左右流产。此类症状的发生多与染色体有关,因此对其进行染色体方面的检查,结果显示患者46条染色体中少了正常的1号、3号、5号染色体,增加了三条新的衍生染色体。

According to handan city maternal and child care service centre prepotency section head ChenHuiYing is introduced,The anomaly of chromosome karyotype is in for a infertility patients do inspection was found.The patients with multiple pregnancy,But during pregnancy are fifty days or so abortion.The occurrence of these symptoms and the chromosome,So the chromosome of inspection,The results showed that patients with 46 chromosomes in less normal 1/3/5 chromosome,Added three new derivative chromosome.

  陈慧英称,之前在对其他患者检查时,染色体异常也时有发生,不过多为一条或两条,三条染色体异常实属罕见。

ChenHuiYing says,For other patients before the examination,Chromosome abnormality is also happen from time to tome,But for more than one or two,Three chromosome abnormality is rare.

  陈慧英说,经报送《中国人类染色体异常目录数据库》异常核型鉴定中心,并由国际人类染色体异常目录登记库顾问中国科学院院士夏家辉等组成的专家委员会进行鉴定,此染色体为“国内外已有资料未见报道”,为“世界首报人类染色体异常核型”。

ChenHuiYing said,After the[China human chromosome abnormality directory database]Abnormal karyotype appraisal center,And the international human chromosome abnormality catalog registration library of Chinese academy of sciences XiaGuHui consultant of the expert committee for appraisal,The chromosome for"Has not reported data at home and abroad",for"The world first to human chromosome abnormal karyotype".

  导致该名患者染色体异常的原因何在?陈慧英分析说,主要原因有两个,可能由于父母的遗传,也可能是受其他因素影响发生突变。院方已联系了患者家属,希望能对患者父母进行检查,以求得结果。但患者家属拒绝接受进一步检查。因此,该名患者染色体异常的原因现在尚无法确定。

Lead to the patients of chromosome abnormality why?ChenHuiYing analysis said,There are two main reasons,May be due to their parents' genetic,May also is affected by other factors affecting mutations.The hospital has contact with the family,Want to be able to check with their parents,To ensure the results.But patients family members refused to accept the further inspection.so,The patients chromosome abnormality reasons it is still not sure.

  陈慧英认为,这一发现填补了人类染色体异常目录数据库的一项空白,为遗传研究提供了新依据,并对临床产前诊断和优生优育工作具有一定的医学应用价值。(完)

ChenHuiYing think,This discovery fill the human chromosome abnormality directory database a blank,For genetic research provides a new basis,And the clinical prenatal diagnosis and prenatal and postnatal care has certain medical application value.(finish)


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