Article
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
American journal of human genetics - 7 Mar 2013
Delio Maria, Guo Tingwei, McDonald-McGinn Donna M, Zackai Elaine, Herman Sean, Kaminetzky Mark, Higgins Anne Marie, Coleman Karlene, Chow Carolyn, Jalbrzikowski Maria, 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
Abstract excerpt
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...
Topics
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome