Frequently Asked Questions

Thanks to this community question, we created the 17q12 Resource Guide to help individuals, families, and caregivers find community organizations, support groups, and online resources in one place.

This is a living guide that will continue to grow as new resources become available. The resources included are provided for informational purposes only and do not imply an endorsement or partnership with PRISMA.

• Organizations & Foundations

• Family & Peer Support Groups

• Education  (Duplication Deletions)

• International groups

• Research & opportunities to participate

Know of a resource that should be included in this guide? We'd love to hear from you! Email us at prisma@ualberta.ca. This living guide will continue to grow with contributions from our community.

One of the most important things to understand is that there is significant variability among individuals with a 17q12 deletion or duplication. It can be difficult to predict exactly what any one person will experience over time, and the presence of a 17q12 CNV does not guarantee specific medical, developmental, or mental health outcomes, meaning there are plenty of opportunities to support people to achieve their maximum potential.

Resources such as GeneReviews, which we helped write, can help families learn about features that have been reported in others with a 17q12 CNV and identify areas that may be important to monitor over time. These resources can also support conversations with healthcare providers about screening, follow-up care, and treatment when needed.

Regular monitoring and individualized care can help ensure that supports are tailored to each person’s unique needs, because every 17q12 journey is unique.

If you want to learn more, check out the 17q12 infographic.