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Title: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
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
Devriendt, Koenraad
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 #
Issue Date: Mar-2013
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:92 issue:3 pages:439-447
Article number: 10.1016/j.ajhg.2013.01.018
Abstract: 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. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6-1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin.
URI: 
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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