Evidence map›Paper›PMID 41508122›Full record

ArticleEuropean journal of medical research2026

Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.

Xiaohuan Zhang, Yingnan Liao, Li Cao, He Lin, Xuemei Wu, Ling Liao, Chang Tan, Shi Ma, Guo Huang

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Article in European journal of medical research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Xiaohuan ZhangGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Yingnan LiaoGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Li CaoGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
He LinGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xuemei WuGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Ling LiaoGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Chang TanGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Shi MaGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Guo HuangGenetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. huangguoguo0528@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveCryptic balanced translocations are a challenging diagnostic dilemma in conventional cytogenetics. This study aimed to evaluate the utility of optical genome mapping (OGM), an emerging technology for detecting structural variations, in resolving such cases among couples with adverse pregnancy outcomes.

methodWe performed a retrospective analysis using OGM on three unsolved cases following karyotyping and trio-whole exome sequencing (trio-WES). The cohort included two couples with adverse pregnancy outcomes and a 46,XX SRY+ male.

resultsIn all three cases where a translocation was clinically suspected but cytogenetically elusive, OGM successfully identified precise cryptic balanced translocations. Crucially, it defined the genomic breakpoints at high resolution. In the case of the 46,XX SRY+ male, OGM identified a cryptic translocation of Yp11.2 into Xp22.3 and the paracentric inversion inv(Y)(p11.2p11.2), explaining the sex reversal phenotype.

conclusionThis study shows that OGM is a valuable adjunctive diagnostic method for detecting cryptic translocations. By providing a molecular diagnosis, it enables definitive reproductive risk assessment and personalized genetic counseling for carrier couples.

Indexed as

Complex chromosomal rearrangementCryptic translocationKaryotypingOptical genome mappingTrio-whole exome sequencing

Identifiers

PMID41508122
PMCPMC12874668

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