Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., Antshel, Kevin, Arango, Celso, Armando, Marco, Bassett, Anne, Bearden, Carrie, Boot, Erik, Bravo-Sanchez, Marta, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Campbell, Linda, Carmel, Miri, Chow, Eva, Crowley, T. Blaine, Cubells, Joseph, Cutler, David, Demaerel, Wolfram, Digilio, Maria Cristina, Duijff, Sasja, Eliez, Stephan, Emanuel, Beverly, Epstein, Michael, Evers, Rens, Fernandez Garcia-Moya, Luis, Fiksinski, Ania, Fraguas, David, Fremont, Wanda, Fritsch, Rosemarie, Garcia-Minaur, Sixto, Golden, Aaron, Gothelf, Doron, Guo, Tingwei, Gur, Ruben, Gur, Raquel, Heine-Suner, Damian, Hestand, Matthew, Hooper, Stephen, Kates, Wendy, Kushan, Leila, Laorden-Nieto, Alejandra, Maeder, Johanna, Marino, Bruno, Marshall, Christian, McCabe, Kathryn, McDonald-McGinn, Donna, Michaelovosky, Elena, Morrow, Bernice, Moss, Edward, Mulle, Jennifer, Murphy, Declan, Murphy, Kieran, Murphy, Clodagh, Niarchou, Maria ![]() ![]() ![]() |
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Abstract
Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) |
Additional Information: | This article has been retracted. Please follow the links to the journal website for more information. Notice DOI: 10.1016/j.ajhg.2018.08.011 |
Publisher: | Elsevier (Cell Press) |
ISSN: | 0002-9297 |
Date of First Compliant Deposit: | 30 April 2018 |
Date of Acceptance: | 16 August 2017 |
Last Modified: | 22 Oct 2023 10:38 |
URI: | https://orca.cardiff.ac.uk/id/eprint/111069 |
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