ArticleAmerican journal of medical genetics. Part A2020
Chromoanasynthesis as a cause of Jacobsen syndrome.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3-q25).Experimental and therapeutic medicine · 2026Article
- Chromoanasynthesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- The Evolutionary Potential of Chromoanagenesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.Frontiers in neurology · 2025Review
- Structural and Mechanistic Diversity of Constitutional Chromoanagenesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- The association between circulating CD34+CD133+ endothelial progenitor cells and reduced risk of Alzheimer's disease in the Framingham Heart Study.Exploration of medicine · 2024Article
- Case report:Frontiers in immunology · 2022Article
- Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing.Scientific reports · 2021Article
- How Chaotic Is Genome Chaos?Cancers · 2021Review
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
Jacobsen syndrome (MIM #147791) is a rare multisystem genomic disorder involving craniofacial abnormalities, intellectual disability, other neurodevelopmental defects, and terminal truncation of chromosome 11q, typically deleting ~170 to >340 genes. 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-at-once replication-based rearrangement mechanism in a gametocyte or early post-zygotic cell. Eighteen genes were deleted from the Jacobsen region, including KIRREL3, which is associated with intellectual disability.
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Registered trials
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