Tingwei Guo, Alexander Diacou, Hiroko Nomaru, Donna M McDonald-McGinn, Matthew Hestand, Wolfram Demaerel, Liangtian Zhang, Yingjie Zhao, Francisco Ujueta, Jidong Shan, Cristina Montagna, Deyou Zheng, Terrence B Crowley, Leila Kushan-Wells, Carrie E Bearden, Wendy R Kates, Doron Gothelf, Maude Schneider, Stephan Eliez, Jeroen Breckpot, Ann Swillen, Jacob Vorstman, Elaine Zackai, Felipe Benavides Gonzalez, Gabriela M Repetto, Beverly S Emanuel, Anne S Bassett, Joris R Vermeesch, Christian R Marshall, Bernice E Morrow
Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some have nested LCR22A-B or LCR22A-C deletions. Our goal is to identify additional recurrent 22q11.2 deletions associated with 22q11.2DS, serving as recombination hotspots for meiotic chromosomal rearrangements...
April 1, 2018: Human Molecular Genetics