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

Abstract Objective Cryptic 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 adver...

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Autors principals: Xiaohuan Zhang, Yingnan Liao, Li Cao, He Lin, Xuemei Wu, Ling Liao, Chang Tan, Shi Ma, Guo Huang
Format: Artigo
Idioma:Inglês
Publicat: BMC 2026-01-01
Col·lecció:European Journal of Medical Research
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Accés en línia:https://doi.org/10.1186/s40001-025-03814-7
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