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By performing OGM genome-wide chromosomal structural variation testing in 11 couples with normal karyotype but recurrent miscarriage or affected offspring, different types of chromosomal rearrangement events were detected in the subjects, including occult Mutual translocations, small fragment insertions and translocations linked by inversions, etc.
(Details of variants with occult rearrangements in subjects)
(FISH variant validation results)
Optical genome mapping (OGM) is a novel high-resolution cytogenetic analysis technique that can rapidly generate high-resolution, ordered genome-wide restriction maps from a single DNA molecule.