1. Longitudinal report of child with de novo 16p11.2 triplication
- Author
-
Caitlin M. Hudac, Trent D. DesChamps, Jessica L. Peterson, Kyle J. Steinman, Arianne S. Wallace, Michael H. Duyzend, Raphael Bernier, Xander Nuttle, and Evan E. Eichler
- Subjects
0301 basic medicine ,Genetics ,business.industry ,Case Report ,16p11.2 deletion ,General Medicine ,Case Reports ,medicine.disease ,Penetrance ,Phenotype ,03 medical and health sciences ,16p11.2 duplication ,030104 developmental biology ,Autism spectrum disorder ,16p11.2 triplication ,medicine ,ASD risk variant ,gene triplication ,business ,Neurocognitive - 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.
- Published
- 2017