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首页> 外文期刊>Molecular cytogenetics >Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
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Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

机译：异种型y染色体的临床，细胞遗传学和分子结果

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BackgroundIsodicentric Y chromosomes [idic(Y)] were first identified by Jacobs et al. [1] and are commonly found in Y chromosome structural aberrations [2]. The formation of isodicentric Y chromosomes is believed to result from intrachromosomal recombination or the fusion between sister chromatids following the chromosomal break of the Y chromosome [3]. The sites where breakage and fusion occur at the Y chromosome vary greatly [4]. Thus, the isodicentric Y chromosome breakpoint would determine the Y material maintained, leading to highly variable duplications and deletions of the Y chromosome.Isodicentric Y chromosomes are quite unstable due to the existence of two centromeres, resulting in various mosaicism [5]. The karyotypes of the mosaic cell lines depend on the origin where the isodicentric Y chromosomes arose and the instability of the altered chromosomes during meiosis or mitosis [6], and a 45,X cell line is the most common [7]. Patients with isodicentric Y chromosomes have a wide range of phenotypic manifestations, such as Turner syndrome in females [8], infertility in males [9], ambiguous genitalia [10], gonadal dysgenesis [11], short stature [12] and others. The phenotypes depend on the breakage and fusion of the isodicentric Y chromosomes, as well as the types and proportions of mosaicism [13].Given that isodicentric Y chromosomes have great impacts on the genotypes and phenotypes of affected patients, a prenatal diagnosis is crucial. Several approaches, including cytogenetic and molecular techniques, are generally applied for the prenatal diagnosis of isodicentric Y chromosomes. The methods can be complementary to each other due to their own merits and limitations.Here, we present six patients with isodicentric Y chromosomes identified prenatally using different detection approaches to emphasize the importance of combining conventional cytogenetic analyses with molecular techniques in prenatal diagnosis. Furthermore, we reviewed the relevant literature aiming to better understand the genotype-phenotype correlations of isodicentric Y chromosomes for comprehensive genetic counselling.
机译：背景isodicentric y染色体[习惯（y）]首先通过jacobs等人鉴定。 [1]并且常见于Y染色体结构像差[2]。据信，形成异胚胎y染色体，从Y染色体的染色体突破后，癌细胞瘤重组或乳腺染色体之间的融合产生的染色体[3]。在Y染色体上发生破损和融合的遗址变化大大[4]。因此，异原硅γ染色体断裂点将确定维持的Y材料，导致Y染色体的高度可变重复和缺失。由于两个焦点存在，导致各种镶嵌而导致的亚铬霉菌染色体是非常不稳定的，导致各种镶嵌[5]。马赛克细胞系的核型取决于异突y染色体的起源，在减少体重减出期间改变的染色体的不稳定性[6]，以及45，x细胞系是最常见的[7]。异胚发染色体的患者具有广泛的表型表现，如女性的特式综合征[8]，雄性不孕症[9]，含糊不清的生殖器[10]，Gonadal Dysenesis [11]，矮小的状态[12]和其他。表型取决于异胚胎Y染色体的破裂和融合，以及镶嵌的类型和比例[13] .given，异常的Y染色体对受影响患者的基因型和表型产生很大影响，产前诊断至关重要。几种方法，包括细胞遗传学和分子技术，通常用于异胚胎Y染色体的产前诊断。由于自己的优点和局限性，这些方法可以互补。，我们呈现六名患有在不同检测方法的产前鉴定的异胚胎染色体患者，以强调将常规细胞遗传学分析与产前诊断中的分子技术相结合的重要性。此外，我们审查了旨在更好地了解异型y染色体的基因型表型相关性以进行综合遗传咨询的相关文献。

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