Below is a summary for 17p13.3 Duplications observed in research publications. This is not meant to take the place of medical advice.
What is 17p13.3 duplication syndrome?
17p13.3 duplication syndrome can affect communication, social, and learning skills. People who have 17p13.3 duplication syndrome may have:
- Intellectual disability
- Low muscle tone
What causes 17p13.3 duplication syndrome?
17p13.3 duplication syndrome happens when someone has an extra piece of chromosome 17, 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.
Do all people with 17p13.3 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.
How many people have 17p13.3 duplication syndrome?
As of 2020, doctors had described about 50 people who have 17p13.3 duplication syndrome. The first case was found in 2009. 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 with 17p13.3 duplication syndrome look different?
People who have 17p13.3 duplication syndrome may look a little bit different. Appearance can vary. Some people have a long face. Some children have features that are linked to low muscle tone in their face, such as droopy skin around the eyes and the eyelid.
Two-thirds of people who have 17p13.3 duplication syndrome have intellectual disability. Most of these cases are mild.
Almost one-third have autism. Some people have other behavior issues, including attention deficit hyperactivity disorder, temper tantrums, occasional obsessive compulsive disorder, and food seeking behaviors.
Almost everyone who has 17p13.3 duplication syndrome has low muscle tone, also known as hypotonia.
Research Article Summaries