Below is a summary for 9q34 duplication observed in research publications. This is not meant to take the place of medical advice.
What does the 9q34 duplication do?
9q34 duplication syndrome can affect communication, social, and learning skills. People who have 9q34 duplication syndrome may have:
- Intellectual disability
- Developmental delay
How many people have a de novo gene change in 9q34 duplication?
As of 2020, doctors had found about 20 people who have 9q34 duplication syndrome. The first case was found in 1983. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
How are people who have changes in 9q34 duplication treated?
A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:
- Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
- Guide individualized education plans (IEPs).
Specialists advise that therapies for 9q34 duplication syndrome should begin as early as possible, ideally before a child begins school.
If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: http://www.epilepsy.com/learn/types-seizures.
Do people who have de novo changes in the 9q34 Duplication gene look different?
People who have 9q34 duplication syndrome do not look different.
Learn more about the 9q34 Duplication and connect with other Simons Searchlight families with the resources below:
Research Article Summaries