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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Библиографические подробности

Главные авторы:	Xiaohuan Zhang, Yingnan Liao, Li Cao, He Lin, Xuemei Wu, Ling Liao, Chang Tan, Shi Ma, Guo Huang
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2026-01-01
Серии:	European Journal of Medical Research
Предметы:	Optical genome mapping Complex chromosomal rearrangement Cryptic translocation Karyotyping Trio-whole exome sequencing
Online-ссылка:	https://doi.org/10.1186/s40001-025-03814-7
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