16p11.2 duplication syndrome is a genetic condition caused by duplication of region on chromosome 16. The odds of developing autism spectrum disorder are elevated and comparable to the rate with 16p11.2 deletion. The rate of having ADHD is higher than in people with deletion.[1][2]

Research

Researchers at Northwestern University created a mouse model of the syndrome.[3]

References

  1. ↑ Niarchou, Maria; Chawner, Samuel J. R. A.; Doherty, Joanne L.; Maillard, Anne M.; Jacquemont, Sébastien; Chung, Wendy K.; Green-Snyder, LeeAnne; Bernier, Raphael A.; Goin-Kochel, Robin P.; Hanson, Ellen; Linden, David E. J.; Linden, Stefanie C.; Raymond, F. Lucy; Skuse, David; Hall, Jeremy; Owen, Michael J.; Bree, Marianne B. M. van den (16 January 2019). "Psychiatric disorders in children with 16p11.2 deletion and duplication". Translational Psychiatry. 9 (1): 8. doi:10.1038/s41398-018-0339-8. ISSN 2158-3188. PMC 6341088. PMID 30664628.
  2. ↑ Fetit, Rana; Price, David J.; Lawrie, Stephen M.; Johnstone, Mandy (October 2020). "Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children". Psychiatric Genetics. 30 (5): 136–140. doi:10.1097/YPG.0000000000000259. ISSN 0955-8829. PMC 7497286. PMID 32732550.
  3. ↑ Forrest, Marc P.; Dos Santos, Marc; Piguel, Nicolas H.; Wang, Yi-Zhi; Hawkins, Nicole A.; Bagchi, Vikram A.; Dionisio, Leonardo E.; Yoon, Sehyoun; Simkin, Dina; Martin-de-Saavedra, Maria Dolores; Gao, Ruoqi; Horan, Katherine E.; George, Alfred L.; LeDoux, Mark S.; Kearney, Jennifer A.; Savas, Jeffrey N.; Penzes, Peter (17 February 2023). "Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub". Nature Communications. 14 (1): 825. doi:10.1038/s41467-023-36087-x. ISSN 2041-1723. PMC 9938216. PMID 36808153.
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