The 3q29 Project

About The 3q29 Project

Welcome!

Whether 3q29 is a brand new term for you or has been part of your life for years, we understand the difficulty of navigating these unchartered waters alone. Let’s face it—most of us never expected to encounter a seemingly random string of numbers and letters that actually represent so much.

This website was created for families, by families.
Our mission is to make 3q29 syndromes easier to navigate.

Information Overload?

The 3q29 Project aims to demystify
3q29 deletion and duplication disorders.

Here’s what’s possible:

  • As a parent, find more of the information you need in one place to help you feel confident in caring and advocating for your child. 
  • Do you have 3q29 deletion syndrome or 3q29 duplication syndrome? Discover what’s new in one spot. 
  • If you’re in charge of caring for or teaching someone with 3q29, learn how to make the biggest impact in their development.
  • Not sure if 3q29 is even part of your life? Just knowing what it IS empowers you to decide if genetic testing is an appropriate next step. 

Who We Are

We’re a growing community of researchers, parents, and people living with a 3q29 condition.

Until 2005, no one had even heard of 3q29 deletion or duplication. Very little information was available about what to expect upon diagnosis. In truth, we still don’t know as much as we’d likebut we’re working on it. And we’re determined to make it easier for you to get the knowledge, resources, and connection you need in one place.

Meet Jennifer Mulle, MHS, PhD, the researcher behind what we know so far about 3q29.

What You’ll Find Here

Research

just the facts

We share results of 3q29 studies in a way you can actually understand. We include links to the full reports if you like to go in-depth. And don’t worry, there’s no fake news here. Our information comes directly from qualified, well-trained researchers.

Information

to share with your healthcare team

If 3q29 has been part of your life for a while, you know you’re often educating your team about the condition. Our experts created shareable and downloadable information you can actually hand to your care team. 

Resources

helpful tips

We’ll help guide you through this journey, including information on how to join the 3q29 registry.

Family

Real-life

stories of people with 3q29

Wondering what’s possible for you or your child? What challenges you might face? We’ll share real-life stories that illustrate the diverse experiences in this community.

Connection

people who understand

The opportunity to connect with other families or individuals all over the world affected by 3q29 who get it. Sign up for monthly emails to stay on top of the new and creative ways we’re finding to come together. 

What is 3q29 Deletion Syndrome?

3q29 deletion syndrome is a genetic condition. Diagnosis occurs when genetic testing shows a tiny part of the third chromosome missing from the DNA of a person’s cells. This missing section of the chromosome is very small but contains several genes. As a result of this missing genetic material, a person’s physical, mental, and emotional development can be affected.

Currently, 3q29 deletion syndrome affects about 1 in 30,000 people. That makes the condition pretty rare, but we believe advances in genetic testing and greater access to this technology will reveal it’s more common than previously believed.

How exactly does 3q29 deletion syndrome affect people? This is what we’re still trying to understand. Researchers know the effects can range from mild to severe. Some common (though not universal) physical features of those with 3q29 include a lean body type, low muscle tone, and small stature. Babies with 3q29 tend to hit their developmental milestones late, and sometimes intellectual disability, autism, or mental illness becomes a challenge.

What’s also clear is that there’s a wide range of experiences.

Researchers are working hard to understand why the deletion happens, why it impacts people so differently, and how best to help.

There’s a lot to learn about 3q29 deletion syndrome. Here’s an informational overview to get you started. Meanwhile, we’ll post research from the 3q29 Project as it becomes available, and offer real-life insight and helpful resources.

What is 3q29 Duplication Syndrome?

3q29 duplication syndrome is a genetic condition. In this case, diagnosis happens when genetic testing shows a tiny part of the third chromosome is duplicated within the DNA of cells. This duplicated section of genetic material is very small but it contains several genes. In some cases, this can impact a person’s physical, mental, and emotional development.

On the other hand, it’s also possible that having 3q29 duplication doesn’t noticeably affect any aspect of a person’s life. Because of this, there are far fewer documented cases of 3q29 duplication relative to the deletion. Researchers have a difficult time designing studies for such a small population. Here again, we’re hopeful that expanded access to testing will help reveal a clearer picture of the actual occurrence of 3q29 duplication syndrome.

Despite the need for more research, what we do know is speech delays, learning disabilities, autism spectrum disorders, and heart abnormalities are a few issues that have been noted in some people with 3q29 duplication syndrome.

The truth is we have a lot to learn about 3q29 duplication syndrome. Limited information is available online; an overview of which can be found here. But as more people receive a diagnosis, we hope to be able to share new findings. In the meantime, we’ll still highlight real-life stories and offer the opportunity for connection and resource-sharing.

The 3q29 Project website and related activities are led by parents to support other parents and caregivers of those with 3q29 Deletion Syndrome or 3q29 Duplication Syndrome. The information we provide is for general informational and educational purposes and is not a substitute for professional medical advice. We are not formally affiliated with any medical or research body, and all our information is based on our own understanding of the research and our own experiences.