The value of optical genomic mapping in a patient with azoospermia and a complex chromosomal rearrangement.

IF 2.7 3区医学 Q2 GENETICS & HEREDITY

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-10 DOI:10.1007/s10815-025-03656-6

Arthur Clément, Samira Ahmed-Eli, Dana Jaber, Laila El Khattabi, Patrice Clément, François Vialard

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Abstract

Introduction: Complex chromosomal rearrangements (CCRs) are frequently associated with infertility and have been described in the literature. Chromoanagenesis corresponds to a group of CCRs with a high number of chromosome breakpoints. These CCRs involving small structural variations can only be identified by using high-resolution genomic techniques.

Case report: Here, we report on a male with azoospermia and a balanced CCR characterized using optical genome mapping. Although the CCR was initially thought to involve four chromosomes, the use of optical genome mapping (OGM) identified 11 breakpoints and led to a final diagnosis of chromothripsis.

Discussion: According to the literature, CCRs supposedly lead to recurrent pregnancy loss in females and infertility in male and, more generally, to meiosis arrest. Optical genome mapping or whole-genome sequencing might be of value for identifying CCRs in patients with azoospermia (avoiding unnecessary testicular sperm extraction) and characterizing the risk of transmission of the unbalanced chromosome to the offspring.

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光学基因组图谱在无精子症和复杂染色体重排患者中的价值。

简介：复杂染色体重排（CCRs）经常与不孕症有关，并已在文献中描述。染色体发育与一组染色体断点较多的ccr相对应。这些涉及小结构变异的ccr只能通过高分辨率基因组技术来识别。病例报告：在这里，我们报告了一个男性无精子症和平衡的CCR用光学基因组图谱表征。虽然CCR最初被认为涉及4条染色体，但使用光学基因组图谱（OGM）确定了11个断点，并最终诊断为染色体分裂。讨论：根据文献，CCRs可能导致女性复发性妊娠丢失和男性不育，更普遍的是导致减数分裂停止。光学基因组定位或全基因组测序可能对鉴定无精子症患者的ccr（避免不必要的睾丸精子提取）和表征不平衡染色体遗传给后代的风险有价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Assisted Reproduction and Genetics 医学-妇产科学

CiteScore

5.70

自引率

9.70%

发文量

286

审稿时长

1 months

期刊介绍： The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species. The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.