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Português 7q11.23 Duplication Syndrome
7q11.23 duplication syndrome is also called 7q11.23 microduplication. For this webpage, we will be using the name 7q11.23 duplication syndrome to encompass the wide range of variants observed in the people identified.
What is 7q11.23 duplication syndrome?
7q11.23 duplication syndrome happens when a person has an extra piece of chromosome 7, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The extra piece can affect learning and how the body develops.
Key Role
The 7q11.23 duplication region plays a role in brain development.
Symptoms
7q11.23 duplication syndrome can affect communication, social, and learning skills. People who have 7q11.23 duplication syndrome may have:
- Distinct facial features
- Speech delay
- Behavioral issues, including anxiety, attention-deficit/hyperactivity disorder (ADHD), and autism
- Developmental delay
- Intellectual disability
- Lower than average muscle tone
- Seizures
- Heart issues
- Gastrointestinal issues
- Vision and hearing issues
What causes 7q11.23 duplication syndrome?
7q11.23 duplication syndrome is a genetic condition, which means that it is caused by variants in genes. Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets genes from their mother, and from their father. In most cases, parents pass on exact copies of their genes to their child. But the process of creating the egg or sperm is not perfect. A change in the genetic code can lead to physical issues, developmental issues, or both.
Sometimes a spontaneous variant happens in the sperm, egg or after fertilization. When a brand new genetic variant happens in the genetic code is called a ‘de novo’ genetic variant. The child is usually the first in the family to have the genetic variant.
De novo variants can take place in any gene. We all have some de novo variants, most of which don’t affect our health. But because 7q11.23 duplication plays a key role in development, de novo variants causing this duplication can have a meaningful effect.
Research shows that 7q11.23 duplication syndrome is often the result of a de novo variant. Many parents who have had their genes tested do not have the 7q11.23 duplication found in their child who has the syndrome. In some cases, 7q11.23 duplication syndrome happens because the genetic variant was passed down from a parent.
Autosomal dominant conditions
7q11.23 duplication syndrome is an autosomal dominant genetic condition. This means that when a person has the one damaging variant of the 7q11.23 duplication they will likely have symptoms of 7q11.23 duplication syndrome. For someone with an autosomal dominant genetic syndrome, every time they have a child there is a 50 percent chance they pass on the same genetic variant and a 50 percent chance they do not pass on the same genetic variant.
Autosomal Dominant Genetic Syndrome
Why does my child or I have 7q11.23 duplication syndrome?
No parent causes their child’s 7q11.23 duplication syndrome. We know this because no parent has any control over the chromosome 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 genetic change takes place on its own and cannot be predicted or stopped.
What are the chances that other family members or future children will have 7q11.23 duplication 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 7q11.23 duplication syndrome depends on the genes of both biological parents.
- If neither biological parent has the same genetic variant 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 genetic variant.
- If one biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is 50 percent.
For a symptom-free brother or sister of someone who has 7q11.23 duplication syndrome, the sibling’s risk of having a child who has 7q11.23 duplication syndrome depends on the sibling’s genes and their parents’ genes.
- If neither parent has the same genetic variant causing 7q11.23 duplication syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit 7q11.23 duplication syndrome.
- If one biological parent has the same genetic variant causing 7q11.23 duplication syndrome, the symptom-free sibling has a 50 percent chance of also having the same genetic variant. If the symptom-free sibling has the same genetic variant, their chance of having a child who has the genetic variant is 50 percent.
For a person who has 7q11.23 duplication syndrome, the risk of having a child who has the syndrome is about 50 percent.
Do all people who have 7q11.23 duplication 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.
Will all of the people in a family that have 7q11.23 duplication syndrome have the same symptoms?
Not necessarily. Family members who have the same chromosome change can have different symptoms.
How many people 7q11.23 duplication syndrome?
About 1 in 7,500 to 1 in 20,000 people have 7q11.23 duplication syndrome. The first case was described in 2007. As of 2024, at least 204 people with 7q11.23 duplication syndrome have been identified in medical research. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Do people who have 7q11.23 duplication syndrome look different?
People who have 7q11.23 duplication syndrome may look different. Appearance can vary and can include some but not all of these features:
- Larger than average head size
- Wide, flat head shape
- Wide forehead
- Straight eyebrows
- Deep-set eyes
- Long eyelashes
- Wide-tipped nose
How is 7q11.23 duplication syndrome treated?
At this point, there are no medicines designed to treat 7q11.23 duplication 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
- Developmental 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 7q11.23 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: www.epilepsy.com/learn/types-seizures.
This section includes a summary of information from published articles. It highlights how many people have different symptoms. See the Sources and references section of this guide for a list of articles.
Behavior and development concerns linked to 7q11.23 duplication syndrome
The typical 7q11.23 duplication region may have up to about 26 genes duplicated. Some people inherit the 7q11.23 duplication from a parent who may or may not have medical features.
Speech and Learning
Most people who have 7q11.23 duplication syndrome have developmental delay as young children, including delayed motor, speech, and social skills. For most children, intellectual ability is low to average. About 20 percent have borderline intellectual disability and 18 percent have intellectual disability.
Almost all young children who have 7q11.23 duplication syndrome have speech delay or other speech issues, including motor challenges that affect speech. Expressive language, the use of words and gestures to communicate, is usually more delayed than receptive language, the ability to understand information.
Behavior
Behavioral disorders occurred in people with 7q11.23 duplication syndrome. About 1 in 5 people had autism, and they more often had attention-deficit/hyperactivity disorder (ADHD). More than 1 out of 3 people with the duplication met criteria for a disruptive behavior disorders diagnosis and oppositional defiant disorder. Many people with 7q11.23 duplication syndrome were diagnosed with selective mutism and social anxiety disorder.
- 27 out of 63 people had ADHD (43 percent)
- 25 out of 63 people had a disruptive behavior disorder (40 percent)
- 19 out of 44 people had oppositional defiant disorder (43 percent)
- 22 out of 49 people were diagnosed with selective mutism (45 percent)
- 29 out of 49 were diagnosed with social anxiety disorder (59 percent)
Brain
Sometimes people with 7q11.23 duplication syndrome reported seizures, and often people had lower than average muscle tone, also called hypotonia, and larger than average head size, also called macrocephaly.
- 18 percent of people had seizures
- 60 percent of people had hypotonia
Medical and physical concerns linked to 7q11.23 distal deletion syndrome
Movement
Almost 3 out of 4 of people who have 7q11.23 duplication syndrome had difficulty or delay in learning motor skills, also called developmental coordination disorder. Sixty-two percent had changes in how they walked or difficulty balancing. Average age of walking was 1.3 years.
Heart
Almost one-half had heart issues, most often a large artery, also known as dilation of the ascending aorta. Some people had patent ductus arteriosus.
- 46 percent of people had dilation of the ascending aorta
- 15 to 30 percent of people had patent ductus arteriosus
Other findings
At least one-half of people had gastrointestinal issues, such as feeding issues or chronic constipation. Some people with 7q11.23 duplication syndrome had genitourinary issues, such as hydronephrosis, unilateral renal agenesis, defects of Müllerian structures, or cryptorchidism.
- 60 percent of people had gastrointestinal issues
- 15 percent of people had genitourinary issues
Where can I find support and resources?
Duplication Cares
Duplication Cares is committed to supporting families with children and adults diagnosed with 7q11.23 Duplication Syndrome, as well as being dedicated to raising awareness in the medical community about the existence and treatment of this disorder.
Simons Searchlight
Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”
- Learn more about Simons Searchlight: www.simonssearchlight.org/frequently-asked-questions
- Simons Searchlight webpage with more information on 7q11.23 duplication: www.simonssearchlight.org/research/what-we-study/7q11-23-duplication
- Simons Searchlight 7q11.23 duplication Facebook community: www.facebook.com/groups/729341430825065/about
Sources and References
The content in this guide comes from published studies on 7q11.23 duplication syndrome. Below you can find details about each study, as well as links to summaries or, in some cases, the full article.
- Sanders SJ. et al. Neuron, 70, 863-885, (2011). Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism
www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065 - Mervis CB. et al. GeneReviews, (2015). 7q11.23 duplication syndrome www.ncbi.nlm.nih.gov/books/NBK327268
- Abbiati, C.I., Velleman, S.L., Overby, M.S., Becerra, A.M., & Mervis, C.B. (2023). Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: Preliminary findings. Clinical Linguistics & Phonetics, 37(4-6), 330-344. https://pubmed.ncbi.nlm.nih.gov/35652603/
- Klein-Tasman, B. P., Yund, B. D., & Mervis, C. B. (2022). The behavioral phenotype of 7q11.23 duplication syndrome includes risk for oppositional behavior and aggression. Journal of Developmental & Behavioral Pediatrics, 43(6), e390-e398. https://pubmed.ncbi.nlm.nih.gov/35580312/
- Osborne, L. R., & Mervis, C. B. (2021). 7q11.23 deletion and duplication. Current Opinion in Genetics & Development, 68, 41-48. https://pubmed.ncbi.nlm.nih.gov/33610060/
- Velleman, S. L., Guimaraes, V. N., Klein-Tasman, B. P., Huffman, M. J., Becerra, A. M., & Mervis, C. B. (2023). Relations between selective mutism and speech sound disorder in children with 7q11.23 duplication syndrome. Journal of Speech, Language, and Hearing Research, 1-11. https://pubmed.ncbi.nlm.nih.gov/37678220/