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Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.
Journal of Assisted Reproduction and Genetics ( IF 3.1 ) Pub Date : 2020-05-12 , DOI: 10.1007/s10815-020-01811-9
Wafa Slimani 1, 2, 3 , Afef Jelloul 1 , Ahmed Al-Rikabi 4 , Amira Sallem 1 , Yosra Hasni 5 , Salma Chachia 6 , Adel Ernez 7 , Anouar Chaieb 6 , Mohamed Bibi 6 , Thomas Liehr 4 , Ali Saad 1, 3 , Soumaya Mougou-Zerelli 1, 3
Affiliation  

PURPOSE To characterize small supernumerary marker chromosomes (sSMC) in infertile males RESEARCH QUESTION: Are molecular cytogenetic methods still relevant for the identification and characterization of sSMC in the era of next-generation sequencing? METHODS In this paper, we report five males with oligoasthenozoospermia or azoospermia with a history of recurrent pregnancy loss in partnership in four cases. R-banding karyotyping and fluorescence in situ hybridization (FISH) analysis were performed and showed sSMC in all five cases. Microdissection and reverse-FISH were performed in one case. RESULTS One sSMC, each, was derived from chromosome 15 and an X-chromosome; two sSMC were derivatives of chromosome 22. The fifth sSMC was a ring chromosome 4 complemented by a deletion of the same region 4p14 to 4p16.1 in one of the normal chromosomes 4. All markers were mosaics except one of sSMC(22). CONCLUSION Through this study, we emphasize the necessity of a proper combination of high-throughput techniques with conventional cytogenetic and FISH methods. This could provide a personalized diagnostic and accurate results for the patients suffering from infertility or RPL. We also highlight FISH analyses, which are essential tools for detecting sSMC in infertile patients. In fact, despite its entire composition of heterochromatin, sSMC can have effects on spermatogenesis by producing mechanical perturbations during meiosis and increasing meiotic nondisjunction rate. This would contribute to understand the exact chromosomal mechanism disrupting the natural and the assisted reproduction leading to offer a personalized support.

中文翻译:

小额外标记染色体 (sSMC) 和男性不育:五个新病例的特征、文献综述和观点。

目的 表征不育男性的小型多余标记染色体 (sSMC) 研究问题:在下一代测序时代,分子细胞遗传学方法是否仍然与 sSMC 的识别和表征相关?方法 在本文中,我们报告了 5 名患有少弱精子症或无精子症的男性,其中 4 例有复发性流产史。进行 R 显带核型分析和荧光原位杂交 (FISH) 分析,结果显示所有 5 例病例均存在 sSMC。1 例进行了显微解剖和反向 FISH。结果 每个 sSMC 均源自 15 号染色体和 X 染色体;两个 sSMC 是 22 号染色体的衍生物。第五个 sSMC 是环形 4 号染色体,通过在正常 4 号染色体之一中删除相同区域 4p14 至 4p16.1 来补充。除了 sSMC(22) 之一外,所有标记都是嵌合体。结论 通过这项研究,我们强调了高通量技术与传统细胞遗传学和 FISH 方法适当结合的必要性。这可以为患有不孕症或 RPL 的患者提供个性化的诊断和准确的结果。我们还重点介绍 FISH 分析,它是检测不孕患者 sSMC 的重要工具。事实上,尽管 sSMC 的全部成分都是异染色质,但它可以通过在减数分裂过程中产生机械扰动并增加减数分裂不分离率来影响精子发生。这将有助于了解破坏自然和辅助生殖的确切染色体机制,从而提供个性化支持。
更新日期:2020-05-12
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