Longitudinal report of child with de novo 16p11.2 triplication

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771938/
https://www.ncbi.nlm.nih.gov/pubmed/29375855
http://dx.doi.org/10.1002/ccr3.1236
Descripción
Sumario: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.

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