16p Duplication Journal Article Summaries

D'Angelo et al. (2015)

Check out our summary: VIP Summary #9: Duplication of 16p11.2: Defining the Effect on Cognition, Behavior, and Medical Comorbidities

Rosenfeld et al. (2010)

Describes common features in 10 individuals with 16p11.2 duplications. Also discusses whether or not duplications were inherited and what features were seen in parents who passed a duplication to their children.

Fernandez et al. (2010)

Detailed description of three individuals with 16p11.2 duplications

McCarthy et al. (2009)

Summarizes the results of a study which found an increased risk for schizophrenia in people with 16p11.2 duplications.  Also discusses other features seen in these individuals.  

Shinawi et al. (2010)

Discusses overall features seen in 10 people with 16p11.2 duplications, as well as whether the duplication was inherited from a parent.

Schaaf et al. (2010)

Discusses a possible link between 16p11.2 duplications and spinal cord cysts (syringomyelia).

Bedoyan et al. (2010)

Describes in detail a child with a seizure disorder who also had a 16p11.2 duplication.