Unique is designed to provide information and support to those who are caring for individuals with rare chromosome differences.
If your child was recently diagnosed, you might consider reading the following pamphlet from Unique first. These papers describe the CNVs in a way that is meant to be easy to understand. It also explains some basic genetics concepts. Very reader friendly!
- 16p11.2 Deletions
- 16p11.2 Duplications
- 1q21.1 Deletions
- 1q21.1 Duplications
- Single Gene Guides (scroll to the bottom of the page)
- Includes (as of 8/31/16): ADNP, ANKRD11, ARID1B, CTNNB1, DYRK1A, GRIN2B, PURA, SCN2A, SETD5, SYNGAP1
If your child has had a genetic test called a microarray, this leaflet will help you understand why that test was performed and how the test works.
Discusses previous research studies about 16p11.2 deletions and duplications, with comments from some of the researchers. Good overview to read before looking at the article summaries on this site.
Provides a brief overview of the deletion and the symptoms individuals may experience. This would be best for parents who are more familiar with genetics or who are interested in building a stronger medical background.
Quick reference sheets explaining what chromosomes are and some of the causes of chromosome differences.