Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications....

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Main Authors: Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jarlbrzkowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2013
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591861/
https://ncbi.nlm.nih.gov/pubmed/23453669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.01.018
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