首页> 外文期刊>Iranian Journal of Reproductive Medicine >ASSOCIATION OF HETEROMORPHISM OF CHROMOSOME 9 AND RECURRENT ABORTION (ULTRASOUND DIAGNOSED BLIGHTED OVUM): A CASE REPORT
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ASSOCIATION OF HETEROMORPHISM OF CHROMOSOME 9 AND RECURRENT ABORTION (ULTRASOUND DIAGNOSED BLIGHTED OVUM): A CASE REPORT

机译:染色体9的异质性与复发性流产(超声诊断枯萎的卵)的关联:病例报告

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Background: Chromosomal disorders are the most common cause of first trimester spontaneous abortion. Among the human chromosomes, chromosome no.9 was the most common structural chromosomal variant and it is not thought to be of any functional importance, which often considers as a normal variation in structural polymorphisms, nevertheless there are some studies which claim that there is an association between heteromorphism of chromosome no.9 and some pregnancy complication.Case: To postulate any correlation between chromosome no.9 heteromorphism and recurrent abortion, chromosomal analysis was performed on the basis of G-banding technique at high resolution for a couple with the history of 4 ultrasound diagnosed blighted ovum and Chromosome constitution appeared with chromosome no.9 heteromorphism in all 30 metaphases screened for both partners (9p11-q13).Conclusion: Observation of reproductive failure in couples with heteromorohic pattern of chromosome no.9 suggests that, although the heteromorphism of chromosome no.9 is not a rare condition which often consider as a normal variation with no evidence of any phenotypic effect of patient, nevertheless it seems as if the location of heteromorphic region maybe interfere with meiotic events like the phenomenon of crossing over or miotic segregation of fertilized egg that eventually lead to the development of fertilized eggs with chromosomal abnormalities leading to the possibility of anemberyonic pregnancy, therefore chromosomal analysis for detecting of chromosome no.9 heteromorphism for couples with the history of ultrasound diagnosed blighted ovum will be strongly suggested.
机译:背景:染色体疾病是孕中期自然流产的最常见原因。在人类染色体中,第9号染色体是最常见的结构染色体变异,因此它不具有任何功能重要性,通常认为这是结构多态性的正常变异,尽管如此,有一些研究声称存在病例:为了推测9号染色体的异质性与反复流产之间的相关性,在高分辨率G谱带技术的基础上进行了染色体分析,结合历史在对两个伴侣进行筛查的所有30个中期中,共有4个超声诊断为枯萎的卵和染色体构成,其中9号染色体具有同质性(9p11-q13)。结论:观察到具有9号染色体异质性模式的夫妇的生殖衰竭。 9号染色体的异质性并非罕见情况,通常被视为正常变异n没有证据表明患者有任何表型效应,尽管如此,异型区域的位置似乎可能干扰减数分裂事件,例如受精卵的交叉或象限分离现象,最终导致受精卵发育并出现染色体异常因此,有可能导致再次妊娠妊娠,因此,强烈建议对具有超声诊断的枯萎卵病史的夫妇进行染色体分析,以检测9号染色体异质性。

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