Open AccessLongitudinal report of child with de novo 16p11.2 triplication
Author(s) -
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.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1236
Subject(s) - medicine , pediatrics
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.