{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T13:07:37Z","timestamp":1787663257565,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T00:00:00Z","timestamp":1712534400000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy\u2010number\u2010variant duplications and defining the mechanisms underlying the formation of certain chromosomal rearrangements.<\/jats:p><jats:p>Optical genome mapping (OGM) is an emerging cytogenomic tool with proved ability to identify the full spectrum of cytogenetic aberrations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we report on the use of OGM in a prenatal diagnosis setting. Detailed breakpoint mapping was used to determine the relative orientations of triplicated and duplicated segments in two unrelated foetuses harbouring chromosomal aberrations: a de novo 15q23q24.2 triplication and a paternally inherited 13q14.2 duplication that overlapped partially with the <jats:italic>RB1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>OGM enabled us to suggest a plausible mechanism for the triplication and confirmed that the <jats:italic>RB1<\/jats:italic> duplication was direct oriented and <jats:italic>in tandem<\/jats:italic>. This enabled us to predict the pathogenic consequences, refine the prognosis and adapt the follow\u2010up and familial screening appropriately.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Along with an increase in diagnostic rates, OGM can rapidly highlight genotype\u2013phenotype correlations, improve genetic counselling and significantly influence prenatal management.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2437","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T13:18:55Z","timestamp":1712582335000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The clinical value of optical genome mapping in the rapid characterization of <scp><i>RB1<\/i><\/scp> duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic 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