Article
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Human molecular genetics - 1 Apr 2018
Guo Tingwei, Diacou Alexander, Nomaru Hiroko, McDonald-McGinn Donna M, Hestand Matthew, Demaerel Wolfram, Zhang Liangtian, Zhao Yingjie, Ujueta Francisco, Shan Jidong, Montagna Cristina, Zheng Deyou, Crowley Terrence B, Kushan-Wells Leila, Bearden Carrie E, Kates Wendy R, Gothelf Doron, Schneider Maude, Eliez Stephan, Breckpot Jeroen, Swillen Ann, Vorstman Jacob, Zackai Elaine, Benavides Gonzalez Felipe, Repetto Gabriela M, Emanuel Beverly S, Bassett Anne S, Vermeesch Joris R, Marshall Christian R, Morrow Bernice E
Abstract excerpt
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...
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