3q29 microduplication syndrome (better known as 3q29 duplication syndrome) is also 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.