What is 3q29 Microdeletion Syndrome?
3q29 microdeletion syndrome (more commonly known now as 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.