Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins

The majority (99%) of individuals with 22q11.2 deletion syndrome (22q11.2DS) have a deletion that is caused by non-allelic homologous recombination between two of four low copy repeat clusters on chromosome 22q11.2 (LCR22s). However, in a small subset of patients, atypical deletions are observed wit...

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Published in:Hum Mol Genet
Main Authors: Vervoort, Lisanne, Demaerel, Wolfram, Rengifo, Laura Y, Odrzywolski, Adrian, Vergaelen, Elfi, Hestand, Matthew S, Breckpot, Jeroen, Devriendt, Koen, Swillen, Ann, McDonald-McGinn, Donna M, Fiksinski, Ania M, Zinkstok, Janneke R, Morrow, Bernice E, Heung, Tracy, Vorstman, Jacob A S, Bassett, Anne S, Chow, Eva W C, Shashi, Vandana, Vermeesch, Joris R
Format: Artigo
Language:Inglês
Published: Oxford University Press 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935389/
https://ncbi.nlm.nih.gov/pubmed/31884517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz166
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