Daniel Moreno-De-Luca, Jennifer G. Mulle, Erin B. Kaminsky, Stephan J

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Presentation transcript:

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia Daniel Moreno-De-Luca, Jennifer G. Mulle, Erin B. Kaminsky, Stephan J. Sanders, Scott M. Myers, Margaret P. Adam, Amy T. Pakula, Nancy J. Eisenhauer, Kim Uhas, LuAnn Weik, Lisa Guy, Melanie E. Care, Chantal F. Morel, Charlotte Boni, Bonnie Anne Salbert, Ashadeep Chandrareddy, Laurie A. Demmer, Eva W.C. Chow, Urvashi Surti, Swaroop Aradhya, Diane L. Pickering, Denae M. Golden, Warren G. Sanger, Emily Aston, Arthur R. Brothman, Troy J. Gliem, Erik C. Thorland, Todd Ackley, Ram Iyer, Shuwen Huang, John C. Barber, John A. Crolla, Stephen T. Warren, Christa L. Martin, David H. Ledbetter The American Journal of Human Genetics Volume 87, Issue 5, Pages 618-630 (November 2010) DOI: 10.1016/j.ajhg.2010.10.004 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 17q12 Region Chromosome 17 schematic showing a close-up of 17q11.2-17q12, including selected genes and segmental duplications in the region, along with the results of four different autism linkage studies51–54 and one association study on male-only autism families55 (black squares [in Stone et al.,54 black squares correspond to markers flanking the linkage peak and are connected by a dotted horizontal black line]). The recurrent 17q12 deletion found in our patients is depicted as a horizontal blue line, flanked by segmental duplications (blue shaded rectangles). The 180K cytogenomic array results of one of the patients are shown below. The American Journal of Human Genetics 2010 87, 618-630DOI: (10.1016/j.ajhg.2010.10.004) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Facial Phenotype of Patients with 17q12 Deletions Macrocephaly, epicanthal folds, downslanting palpebral fissures, arched and high eyebrows, slightly depressed nasal bridge, and malar flattening are the features shared most consistently among these patients. Profile pictures and photographs at different ages are provided when available, showing the progression of the phenotype over time. The American Journal of Human Genetics 2010 87, 618-630DOI: (10.1016/j.ajhg.2010.10.004) Copyright © 2010 The American Society of Human Genetics Terms and Conditions