What does it mean to have a 1q21.1 deletion?
Genes provide our body with instructions. Our body carries genes in structures called chromosomes. We have two copies of each chromosome, one from the birth father and one from the birth mother. Sometimes people are born with extra or missing sections of chromosomes. Extra or missing genetic material can impact health, learning, and behavior. The effects vary based on the location and size of the changes and what the genes there do.
People with 1q21.1 deletions are missing a section in one of their two copies of chromosome 1.
People with 1q21.1 deletions appear to have an increased risk for development problems, including autism. Depending on what genetic information is missing, the lack of it can impact a person’s health, learning, and behavior. What scientists know about 1q21.1 deletions is limited, and families and doctors share a critical need for more information.
Learn more about 1q21.1 Deletions and connect with other Simons Searchlight families with the resources below:
Research Article Summaries