Frequently Asked Questions

1. What is dup 7q11.23 syndrome?

Dup 7q11.23 syndrome is a rare genetic disorder in which individuals carry an extra copy of a tiny portion of chromosome 7

2. What causes dup 7q11.23 syndrome?

The duplication on chromosome 7q11.23 is caused by an error that happens when this part of the genome is copied (most likely in the formation of the egg or sperm). There is nothing that a parent might have done to cause this condition, nor is there anything that a parent could have done to prevent the error from occurring.

3. What should I expect in the future for my child with dup 7q11.23 syndrome?

Every individual with dup 7q11.23 syndrome is unique and it is impossible to know exactly what to expect. However, most individuals with dup 7q11.23 syndrome have some degree of developmental delay, primarily speech delay. In addition, many individuals display some behaviors similar to those seen in patients with autism spectrum disorders.

4. Does this mean that my child with dup 7q11.23 syndrome will have autism?

No, but they might show some features such as anxiety, difficulty with interpersonal skills, repetitive behaviors, or other unusual behaviors. Only a detailed psychological evaluation can determine whether your child has features that are consistent with the diagnosis of autism or an autism-spectrum disorder.

5. Is there a cure for dup 7q11.23 syndrome?

Because the duplication of genetic material exists in every cell of the body, there is no way to “cure” the syndrome at present. However, physical / occupational / speech therapy can help children overcome some of the developmental delays. In addition, your primary physician may recommend additional treatments for other aspects of your child’s individual condition.

6. Are other family members at risk for having a child with dup 7q11.23 syndrome?

This question can only be answered by your geneticist or genetic counselor. In most cases, dup 7q11.23 syndrome occurs only in the affected child and there is a very low risk of recurrence in the family. However, in a fraction of cases (perhaps 10%) an otherwise unaffected parent is found to be a carrier of the duplication. In this case, the recurrence risk would be higher and the parents should receive detailed genetic counseling. As with many genetic syndromes, we recommend for parents to be tested for their child’s duplication in order to provide the most accurate recurrence risk counseling.

7. Where can I get more information about dup 7q11.23 syndrome?

Since this syndrome has only recently been described, physicians are still in the process of learning about it. If you would like to share information with your primary physician, we will provide a copy of our recent paper on request. Joining the family support network is also a great way to share information and ideas.