Below is a summary for 1q21.1 Deletion observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
To view the latest quarterly registry report, updated March 2021, with updated data on Simons Searchlight 1q21.1 Deletion participants, click HERE. If you want to be included in future reports, join Simons Searchlight today!
What is 1q21.1 deletion syndrome?
People who have 1q21.1 deletion syndrome may have:
- Developmental delay
- Autism spectrum disorder
- Mood disorders and anxiety
- Short height
- Cataracts, or a clouding in the lens of the eyes that affects vision
- Heart problems
What causes 1q21.1 deletion syndrome?
1q21.1 deletion syndrome happens when someone is missing a piece of chromosome 1, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.
Do people who have 1q21.1 deletion syndrome look different?
People who have 1q21.1 deletion syndrome may look different. Some people have a small head, also called microcephaly.
How many people have 1q21.1 deletion syndrome?
As of 2020, doctors had described a few dozen people who have 1q21.1 deletion syndrome. The first case was found in 2008. 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.
Short height is found in 6 out of 12 people, or 50%.
Small head size is found in 4 out of 18 people, or 22%.
BRAIN and NERVOUS SYSTEM
Tremors are found in 8 out of 18 people, or 44%.
Seizures are found in 3 out of 17 people, or 18%.
Low muscle tone is found in
7 out of 18 people, or 39%.
Overactive reflexes, also called hyperreflexia, is found in 6 out of 17 people, or 35%.
Learn more about 1q21.1 Deletion and connect with other Simons Searchlight families with the resources below.
Research Article Summaries