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We describe the first case of Jacobsen syndrome caused by congenital chromoanasynthesis, an extreme form of complex chromosomal rearrangement. Six duplications and five deletions occurred on one copy of chromosome 11q with microhomology signatures in the breakpoint junctions, indicating an all\u2010at\u2010once replication\u2010based rearrangement mechanism in a gametocyte or early post\u2010zygotic cell. Eighteen genes were deleted from the Jacobsen region, including KIRREL3, which is associated with intellectual disability.<\/jats:p>","DOI":"10.1002\/ajmg.a.61824","type":"journal-article","created":{"date-parts":[[2020,8,26]],"date-time":"2020-08-26T02:48:22Z","timestamp":1598410102000},"page":"2533-2539","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Chromoanasynthesis as a cause of Jacobsen syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Sarah","family":"Anzick","sequence":"first","affiliation":[{"name":"Research Technology Branch National Institute of Allergy and Infectious Diseases, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Thurm","sequence":"additional","affiliation":[{"name":"Neurodevelopmental and Behavioral Phenotyping Service National Institute of Mental Health, NIH  Bethesda Maryland 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