Longitudinal report of child with de novo 16p11.2 triplication. Issue 1 (6th December 2017)

• Record Type: Journal Article
• Authors: Wallace, Arianne S.; Hudac, Caitlin M.; Steinman, Kyle J.; Peterson, Jessica L.; DesChamps, Trent D.; Duyzend, Michael H.; Nuttle, Xander; Eichler, Evan E.; Bernier, Raphael A.
• Is Part Of: Clinical case reports. Volume 6:Issue 1(2018)
• Page Start: 147
• Page End: 154
• Publication Date: 2017-12-06
• Subjects: 16p11.2 deletion -- 16p11.2 duplication -- 16p11.2 triplication -- ASD risk variant -- gene triplication; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1236
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above‐average physical growth. Abstract : 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above‐average physical growth.