[Diagnosis of a case of complex chromosomal rearrangement by optical genome mapping].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-06-10 DOI:10.3760/cma.j.cn511374-20241025-00560

Xia Ye, Xuzhuo Zhang, Jingtian Lu, Yanhong Yu, Hong Li, Juan Qiu

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引用次数: 0

Abstract

Objective: To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM).

Methods: A female patient who was diagnosed with "primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosome G banding karyotyping analysis was carried out for the patient and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504).

Results: The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomes 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype.

Conclusion: The OGM technique can refine the position of chromosomal breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.

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[光学基因组图谱诊断1例复杂染色体重排]。

目的：应用光学基因组图谱（OGM）分析1例复杂染色体重排性不孕症患者。方法：选择2024年4月在深圳市龙华区妇幼保健院确诊为“原发性不孕症”的1例女性患者作为研究对象。收集患者的临床资料。对患者及其父母进行染色体G带核型分析，并进行OGM和拷贝数变异测序（CNV-seq）。本研究已获本院医学伦理委员会批准(伦理号：: 2023052504)。结果：患者女，33岁，不孕5年。OGM通过5号和18号染色体的重排发现了两条衍生染色体的形成。通过OGM和CNV-seq技术也检测到5号染色体上的杂合性缺失。她的父母都有正常的核型。结论：OGM技术可以细化染色体断点的位置，确定插入片段的方向和位置。结合核型分析，OGM可以准确地确定患者的染色体核型，便于遗传咨询。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.