Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

• Published in: American journal of medical genetics. Part A Vol. 176; no. 10; pp. 2172 - 2181
• Main Authors: Zhao, Yingjie, Guo, Tingwei, Fiksinski, Ania, Breetvelt, Elemi, McDonald‐McGinn, Donna M., Crowley, Terrence B., Diacou, Alexander, Schneider, Maude, Eliez, Stephan, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris, Chow, Eva W. C., Gothelf, Doron, Duijff, Sasja, Evers, Rens, Amelsvoort, Thérèse A., Bree, Marianne, Owen, Michael, Niarchou, Maria, Bearden, Carrie E., Ornstein, Claudia, Pontillo, Maria, Buzzanca, Antonino, Vicari, Stefano, Armando, Marco, Murphy, Kieran C., Murphy, Clodagh, Garcia‐Minaur, Sixto, Philip, Nicole, Campbell, Linda, Morey‐Cañellas, Jaume, Raventos, Jasna, Rosell, Jordi, Heine‐Suner, Damian, Shprintzen, Robert J., Gur, Raquel E., Zackai, Elaine, Emanuel, Beverly S., Wang, Tao, Kates, Wendy R., Bassett, Anne S., Vorstman, Jacob A. S., Morrow, Bernice E.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.10.2018; Wiley Subscription Services, Inc
• Subjects: 22q11.2 deletion syndrome; Adolescent; Adult; Base pairs; Child; Chromosome Deletion; Chromosomes, Human, Pair 22; Coronary artery disease; deletion size; DiGeorge Syndrome - genetics; DiGeorge Syndrome - psychology; Female; Gene deletion; Haploinsufficiency; Heart diseases; Homologous recombination; Humans; intellectual disability; Intellectual Disability - genetics; Intelligence; Intelligence Tests; low copy repeat; Male; Meiosis; segmental duplication; 22q11.2 deletion syndrome; IQ; low copy repeat; segmental duplication; deletion size; intellectual disability

The 22q11.2 deletion syndrome is caused by non‐allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A‐D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects wit...