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首页> 外文期刊>Molecular cytogenetics >C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis
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C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

机译：C-染色和染色仍然是有效的互补方法，以鉴定染色体异常和产前诊断中的一些结构异常

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In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conventional cytogenetic and specific staining methods still play an important role in the work-up of chromosome anomaly. This study investigated the application of C-banding and AgNOR-staining techniques in prenatal diagnosis of chromosomal heteromorphisms and some structure abnormalities. Among the 2970 samples, the incidence of chromosomal heteromorphisms was 8.79% (261/2970). The most frequent was found to be chromosome Y (2.93%, 87/2970), followed by chromosome 1 (1.65 %, 49/2970), 9 (1.52 %, 45/2970), 22 (0.77 %, 23/2970) and 15 (0.64 %, 19/2970). We compared the incidence of chromosomal heteromorphisms between recurrent spontaneous abortion (RSA) group and control group. The frequency of autosomal hetermorphisms in RSA group was 7.63% higher than that in control group (5.78%), while the frequency of Y chromosomal heteromorphisms was 4.76% lower than that in control group (5.71%). Here we summarized 4 representative cases, inv (1) (p12q24), psu dic (4;17) (p16.3;p13.3), r(X)(p11; q21) and an isodicentric bisatellited chromosome to illustrate the application of C-banding or AgNOR-staining, CMA or NGS was performed to detect CNVs if necessary. This study indicated that C-banding and AgNOR-staining were still effective complementary methods to identify chromosomal heteromorphisms and marker chromosomes or some structural rearrangements involving the centromere or acrocentric chromosomes. Our results suggested that there was no evidence for an association between chromosomal heteromorphisms and infertility or recurrent spontaneous abortions. Undoubtedly, sometimes we needed to combine the results of CMA or CNV-seq to comprehensively reflect the structure and aberration of chromosome segments. Thus, accurate karyotype reports and genetic counseling could be provided.
机译：在产前诊断中，CMA已经开始涌现为核型分析的有利替代品，但它无法识别平衡的易位，三倍体，反转和异统称性。因此，常规的细胞遗传学和特异性染色方法仍然在染色体异常的处理中起重要作用。本研究研究了C型染色和Agnor染色技术在染色体异常的产前诊断和一些结构异常中的应用。在2970个样品中，染色体异晶的发病率为8.79％（261/2970）。发现最常见的是染色体y（2.93％，87/2970），其次是染色体1（1.65％，49/2970），9（1.52％，45/2970），22（0.77％，23/2970） 15（0.64％，19/2970）。我们比较了复发自发性流动（RSA）组和对照组之间的染色体异谱的发病率。 RSA基团的常染色体正畸频率比对照组（5.78％）高出7.63％（5.78％），而Y染色体异常的频率低于对照组的4.76％（5.71％）。在这里，我们总结了4例代表性病例，INV（1）（P12Q24），PSU DIC（4; 17）（P16.3; P13.3），R（X）（P11; Q21）和异胚胎均相染色体，以说明应用在必要时进行C束带或Agnor染色，进行CMA或NGs以检测CNV。该研究表明，C-束带和Agnor染色仍然是有效的互补方法，以鉴定染色体异素和标记染色体或涉及焦点或上生染色体的一些结构重排。我们的研究结果表明，染色体异常和不孕症或经常性自发流动之间没有证据表明。毫无疑问，有时我们需要结合CMA或CNV-SEQ的结果，以全面地反映染色体区段的结构和像差。因此，可以提供准确的核型报告和遗传咨询。

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