1. Chromoanasynthesis as a cause of Jacobsen syndrome.
- Author
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Anzick S, Thurm A, Burkett S, Velez D, Cho E, Chlebowski C, Virtaneva K, Bruno D, Martin CB, Lang DM, Brooks B, Martens C, McDermott DH, and Murphy PM
- Subjects
- Carrier Proteins genetics, Child, Chromosome Aberrations, Chromosomes, Human, Pair 11, Gene Deletion, Gene Duplication, Humans, Karyotyping, Male, Membrane Proteins genetics, Polymerase Chain Reaction, Whole Genome Sequencing, Craniofacial Abnormalities genetics, Intellectual Disability genetics, Jacobsen Distal 11q Deletion Syndrome genetics
- 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., (© 2020 Wiley Periodicals LLC.)
- Published
- 2020
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