ArticleAmerican journal of human genetics2017
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- Genome diversity and instability in human germ cells and preimplantation embryos.Seminars in cell & developmental biology · 2021Article
- What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.American journal of medical genetics. Part A · 2018Article
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.Molecular cytogenetics · 2018Article
- Article
Corrections and comments
- Retraction · 2018-09-06Error in Analyses · Bias Issues or Lack of Balance · · The following authors were listed as part of the Consortium: Kevin Antshel, Celso Arango, Marco Armando,Anne Bassett, Carrie Bearden, Erik Boot, Marta Bravo-Sanchez,Elemi Breetvelt, Tiffany Busa, Nancy Butcher, Linda Campbell,Miri Carmel, Eva Chow, T. Blaine Crowley, Joseph Cubells, DavidCutler, Wolfram Demaerel, Maria Cristina Digilio, Sasja Duijff, Ste-phan Eliez, Beverly Emanuel, Michael Epstein, Rens Evers, LuisFernandez Garcia-Moya, Ania Fiksinski, David Fraguas, Wanda Fre-mont, Rosemarie Fritsch, Sixto Garcia-Minaur, Aaron Golden,Doron Gothelf, Tingwei Guo, Ruben Gur, Raquel Gur, DamianHeine-Suner, Matthew Hestand, Stephen Hooper, Wendy Kates,Leila Kushan, Alejandra Laorden-Nieto, Johanna Maeder, BrunoMarino, Christian Marshall, Kathryn McCabe, Donna McDo-nald-McGinn, Elena Michaelovosky, Bernice Morrow, EdwardMoss, Jennifer Mulle, Declan Murphy, Kieran Murphy, ClodaghMurphy, Maria Niarchou, Claudia Ornstein, Michael Owen,Nicole Philip, Gabriela Repetto, Maude Schneider, VandanaShashi, Tony Simon, Ann Swillen, Flora Tassone, Marta Unolt,Therese van Amelsvoort, Marianne van den Bree, Esther VanDuin, El? Vergaelen, Joris Vermeesch, Stefano Vicari, ClaudiaVingerhoets, Jacob Vorstman, Steve Warren, Ronnie Weinberger,Omri Weisman, Abraham Weizman, Elaine Zackai, Zhengdong Zhang, and Michael Zwick
- Retracted
Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.