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Português 6q16 Deletion Syndrome
What is 6q16 deletion syndrome?
6q16 deletion syndrome happens when there are changes to the 6q16 gene. These changes can keep the gene from working as it should.
Key Role
6q16 deletion syndrome can affect communication, social, and learning skills.
Symptoms
- Developmental delay
- Learning difficulties
- Behavior issues, including hyperactivity and features of autism
- Excessive hunger and obesity that begins early in life
- Low muscle tone
- Changes in appearance
What causes 6q16 deletion syndrome?
6q16 deletion syndrome happens when someone is missing a piece of chromosome 6, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.
Some people inherit a genetic change from a parent. In other people, small mistakes can occur when genes are being copied. Parts of the chromosomes can break off, make extra copies, or end up in a different order than expected. When this happens, it is called a “de novo”, or new, change. The child can be the first in the family to have the genetic change.
Child who has genetic change in 6q16 gene
Why does my child have a change in the 6q16 gene?
No parent causes their child’s 6q16 deletion syndrome. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.
Do all people with 6q16 deletion syndrome have symptoms?
Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this genetic change until it is found in their children.
What are the chances that other family members of future children will have 6q16 deletion syndrome?
Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.
The risk of having another child who has 6q16 deletion syndrome depends on the genes of both birth parents.
- If neither birth parent has the same gene change found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increase in risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same change in the gene.
- If one birth parent has the same gene change found in their child, the chance of having another child who has the syndrome is 50 percent.
For a symptom-free sibling, a brother or sister, of someone who has 6q16 deletion syndrome, the risk of having a child who has the syndrome depends on the symptom-free sibling’s genes and their parents’ genes.
- If neither parent has the same gene change found in their child who has the syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who has 6q16 deletion syndrome.
- If one birth parent has the same gene change found in their child who has the syndrome, the symptom-free sibling has a small chance of also having the same gene change. If the symptom- free sibling has the same gene change as their sibling who has the syndrome, the symptom-free sibling’s chance of having a child who has 6q16 deletion syndrome is 50 percent.
For a person who has 6q16 deletion syndrome, the risk of having a child who has the syndrome is about 50 percent.
How many people have 6q16 deletion syndrome?
As of 2020, doctors had found about 30 people who have 6q16 deletion syndrome. 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.
Do people who have 6q16 deletion syndrome look different?
People who have 6q16 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Round face and full cheeks
- Large head, also known as macrocephaly
- Wide head with a flat back, also called brachycephaly
- Protruding forehead
- Large space between the nose and the upper lip
- Fat, round, or bulging nose
How is 6q16 deletion syndrome treated?
Scientists and doctors have only just begun to study 6q16 deletion syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:
- Physical exams and brain studies
- Genetics consults
- Development and behavior studies
- Other issues, as needed
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 6q16 deletion 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: epilepsy.com/…t-is-epilepsy/seizure-types
6q16 deletion syndrome is very rare. Doctors and scientists have just recently begun to study it. As of 2020, studies found around 30 people who have 6q16 deletion syndrome.
This section includes a summary of information from major published articles. It highlights how many people have different symptoms. To learn more about the articles, see the Sources and references section of this guide.
Behavior and development concerns linked to 6q16 deletion syndrome
Learning
Most people who have the syndrome have developmental delay and learning difficulties and need special educational support. One study of 30 people found that 97 percent have developmental delay and 97 percent have learning difficulties.
Behavior
About 60 percent of people who have the syndrome have behavior issues, including features of autism or attention deficit hyperactivity disorder. This can range from repetitive movements and hyperactivity to tantrums and aggressive behavior. Some people have sleep problems.
Medical and physical concerns linked to 6q16 deletion syndrome
Eyes and Eyesight
Eye issues are common. These can include nearsightedness or crossed eyes, also called strabismus.
Where can I find support and resources?
Unique – 6q16 Deletion Guidebook
Simons Searchlight is another research program sponsored and run by the Simons Foundation Autism Research Initiative, also known as SFARI. As part of the next step in your research journey, Simons Searchlight offers you the opportunity to partner with scientists and other families who have the same gene change. Simons Searchlight is a registry for more than 150 genetic changes that are associated with neurodevelopmental conditions, including autism spectrum disorder. Simons Searchlight makes it easier for researchers to access the information they need to advance research on a condition. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us Today”.
Learn more about Simons Searchlight
www.simonssearchlight.org/frequently-asked-questions
Simons Searchlight webpage with more information on 6q16 deletion
www.simonssearchlight.org/research/what-we-study/6q16-deletion
Simons Searchlight Facebook group
Sources and References
PubMed search for 6q16 deletion https://pubmed.ncbi.nlm.nih.gov/?term=6q16+deletion