Ontology highlight
ABSTRACT:
SUBMITTER: Delio M
PROVIDER: S-EPMC3591861 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Delio Maria M Guo Tingwei T McDonald-McGinn Donna M DM Zackai Elaine E Herman Sean S Kaminetzky Mark M Higgins Anne Marie AM Coleman Karlene K Chow Carolyn C Jalbrzikowski Maria M Bearden Carrie E CE Bailey Alice A Vangkilde Anders A Olsen Line L Olesen Charlotte C Skovby Flemming F Werge Thomas M TM Templin Ludivine L Busa Tiffany T Philip Nicole N Swillen Ann A Vermeesch Joris R JR Devriendt Koen K Schneider Maude M Dahoun Sophie S Eliez Stephan S Schoch Kelly K Hooper Stephen R SR Shashi Vandana V Samanich Joy J Marion Robert R van Amelsvoort Therese T Boot Erik E Klaassen Petra P Duijff Sasja N SN Vorstman Jacob J Yuen Tracy T Silversides Candice C Chow Eva E Bassett Anne A Frisch Amos A Weizman Abraham A Gothelf Doron D Niarchou Maria M van den Bree Marianne M Owen Michael J MJ Suñer Damian Heine DH Andreo Jordi Rosell JR Armando Marco M Vicari Stefano S Digilio Maria Cristina MC Auton Adam A Kates Wendy R WR Wang Tao T Shprintzen Robert J RJ Emanuel Beverly S BS Morrow Bernice E BE
American journal of human genetics 20130228 3
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 genoty ...[more]