Evidence map›Paper›PMID 40476266›Full record

ArticleFrontiers in genetics2025

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements.

Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Xiaohang HuDepartment of Medical Laboratory, Affiliated Hospital of Jining Medical University, Shandong Key Laboratory of Multi-disciplinary Molecular Diagnosis Precision Medicine, Jining, Shandong, China.
Jing GuoDepartment of Medical Laboratory, Disease Prevention and Control Center of Jining Rencheng District, Jining, Shandong, China.
Haiyang SangDepartment of Medical Laboratory, Affiliated Hospital of Jining Medical University, Shandong Key Laboratory of Multi-disciplinary Molecular Diagnosis Precision Medicine, Jining, Shandong, China.
Jinyan YanDepartment of Medical Laboratory, Affiliated Hospital of Jining Medical University, Shandong Key Laboratory of Multi-disciplinary Molecular Diagnosis Precision Medicine, Jining, Shandong, China.
Hong ChangDepartment of Medical Laboratory, Affiliated Hospital of Jining Medical University, Shandong Key Laboratory of Multi-disciplinary Molecular Diagnosis Precision Medicine, Jining, Shandong, China.
Ting LiuDepartment of Medical Laboratory, Affiliated Hospital of Jining Medical University, Shandong Key Laboratory of Multi-disciplinary Molecular Diagnosis Precision Medicine, Jining, Shandong, China.
Haixin DongDepartment of Medical Laboratory, Affiliated Hospital of Jining Medical University, Shandong Key Laboratory of Multi-disciplinary Molecular Diagnosis Precision Medicine, Jining, Shandong, China.
Min KongMedical Laboratory of Jining Medical University, Lin He's Academician Workstation of New Medicine and Clinical Translation in Jining Medical University, Jining Medical University, Jining, Shandong, China.
Yanjun TianMedical Laboratory of Jining Medical University, Lin He's Academician Workstation of New Medicine and Clinical Translation in Jining Medical University, Jining Medical University, Jining, Shandong, China.
Liqing JiangDepartment of Medical Laboratory, Affiliated Hospital of Jining Medical University, Shandong Key Laboratory of Multi-disciplinary Molecular Diagnosis Precision Medicine, Jining, Shandong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Individuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations. Traditional cytogenetic techniques are limited by their low resolution, whereas optical genome mapping offers enhanced capabilities for detecting chromosomal rearrangements and determining genomic localization and orientation. This study sought to evaluate the efficacy of optical genome mapping in identifying complex balanced chromosomal rearrangements that may contribute to fertility challenges. Case presentation: A 21-year-old Asian female patient with a history of recurrent abortions was included in the study. Peripheral blood samples were collected for high-resolution karyotyping, chromosomal microarray analysis, and optical genome mapping. The high-resolution karyotype analysis identified complex chromosomal abnormalities. Optical genome mapping has revealed additional cryptic chromosomal aberrations, such as ins (2; 12) (p16.1; q12q12), inv (6) (q21q21), and inv (12) (q12q12), offering a novel perspective on this case. Notably, the disrupted genes, including Conclusion: This study underscores the capability of optical genome mapping to deliver comprehensive and precise information. It is anticipated that optical genome mapping will emerge as a valuable cytogenetic tool within clinical genetic methodologies, providing new references and insights for clinical practice in the future.

Indexed as

balanced reciprocal rearrangementschromosomal microarray analysiscomplex chromosomal rearrangementshigh-resolution karyotyping analysisoptical genome mapping

Identifiers

PMID40476266
PMCPMC12138902

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