作者
Maria Delio, Tingwei Guo, Donna M McDonald-McGinn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jarlbrzkowski, Carrie E Bearden, Alice Bailey, Anders Vangkilde, Line Olsen, Charlotte Olesen, Flemming Skovby, Thomas M Werge, Ludivine Templin, Tiffany Busa, Nicole Philip, Ann Swillen, Joris R Vermeesch, Koen Devriendt, Maude Schneider, Sophie Dahoun, Stephan Eliez, Kelly Schoch, Stephen R Hooper, Vandana Shashi, Joy Samanich, Robert Marion, Therese van Amelsvoort, Erik Boot, Petra Klaassen, Sasja N Duijff, Jacob Vorstman, Tracy Yuen, Candice Silversides, Eva Chow, Anne Bassett, Amos Frisch, Abraham Weizman, Doron Gothelf, Maria Niarchou, Marianne van den Bree, Michael J Owen, Damian Heine Suñer, Jordi Rosell Andreo, Marco Armando, Stefano Vicari, Maria Cristina Digilio, Adam Auton, Wendy R Kates, Tao Wang, Robert J Shprintzen, Beverly S Emanuel, Bernice E Morrow
发表日期
2013/3/7
期刊
The American Journal of Human Genetics
卷号
92
期号
3
页码范围
439-447
出版商
Cell Press
简介
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 …
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M Delio, T Guo, DM McDonald-McGinn, E Zackai… - The American Journal of Human Genetics, 2013