Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.

ABSTRACT:

Background

Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered difficult to detect by routine cytogenetic methods. In this study, OGM was applied to delineate the precise chromosomal rearrangements in three cases with uncertain or unconfirmed CCRs detected by conventional karyotyping and one case with a cryptic translocation suggested by fetal chromosomal microarray analysis (CMA).

Results

In the three cases with CCRs, OGM not only confirmed or revised the original karyotyping results but also refined the precise chromosomal structures. In the case with a suspected translocation not detected b

SUBMITTER: Shi S 

PROVIDER: S-EPMC10134526 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature