Below is a summary for 1q21.1 Duplication observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about chromosome 1q21.1 microduplication such as the chance of having another child with this condition, behavior and development concerns linked to chromosome 1q21.1 microduplication syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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What is 1q21.1 microduplication syndrome?
1q21.1 microduplication syndrome can affect communication, social, and learning skills. People who have 1q21.1 microduplication syndrome may have:
- Developmental delay
- Intellectual disability
- Autism or related behavior issues
What causes 1q21.1 microduplication syndrome?
People who have 1q21.1 microduplication syndrome have an extra piece of chromosome 1. The extra piece can affect learning and how the body develops. Researchers are trying to learn more about what the genes in this extra piece do.
Do all people who have 1q21.1 microduplication syndrome have symptoms?
Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this chromosome change until it is found in their children.
Do all the people in a family that has the chromosome change have the same symptoms?
Not necessarily. Family members who have the same chromosome change can have different symptoms.
Many people have learning issues. But most do not have intellectual disability. 20% have intellectual disability
Some people who have the syndrome have attention deficit hyperactivity disorder (ADHD) or autism. 40% have autism 30% have ADHD
Some people have some trouble understanding and forming words. 38% have trouble forming words
Learn more about 1q21.1 Duplication and connect with other Simons Searchlight families with the resources below.
Research Article Summaries
Previous Registry Reports
Sources and References