16p Deletion Journal Article Summaries

Moreno-De-Luca et al. (2014)

The study explores the features seen in 16p11.2 deletions, with a specific focus on the effect of family background on learning, behavior, and motor skills. By measuring the performance of unaffected parents and siblings and comparing to the performance of a child with the deletion, investigators conclude that family background contributes to the variability and differences in symptoms seen in people with 16p11.2 deletions.

Check out the Simons VIP Summary of this research article, too.

Hanson et al. (2014)

This study illustrates the clinical presentation of 85 individuals with 16p11.2 deletion as compared to 153 individuals without the deletion. Researchers found that there was a higher frequency of psychiatric and developmental disorders in people with the 16p11.2 deletion.

Zufferey et al. (2012)

This is the largest study so far of individuals with 16p11.2 deletions, a collaboration between the Simons VIP study and a European research group.

Rosenfeld et al. (2010) 

A study of individuals with 16p11.2 deletions. This is a good place to start to get an idea of the variety of features that can be seen. Summarizes the features of 18 individuals and tells whether or not the deletion was inherited in 22 families.

Fernandez et al. (2010)

Detailed description of five individuals with 16p11.2 deletions.

Shinawi et al. (2010)

Summarizes the features of 17 individuals with 16p11.2 deletions. The most common features included speech delay, feeding problems, and behavior problems.

Hanson et al. (2010)

Describes the most common features in 21 people with 16p11.2 deletions. Also gives the results of a learning, behavior, and social interaction assessment of 11 people with deletions.

Walters et al. (2010)

Summarizes the results of three studies which found a link between 16p11.2 deletions and obesity.

Bijlsma et al. (2009)

Gives the overall features of 14 people with deletions at 16p11.2. Also tells whether or not the deletion was inherited when possible. 

Shen et al. (2011)

Gives an example of the variety of features that can be seen with 16p11.2 deletions by describing two brothers and their father who have the deletion.

Schaaf et al. (2010)

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

Sampson et al. (2010)

Describes 3 individuals with 16p11.2 deletions and birth defects involving the kidney, the colon, or both.