16p11.2 deletion syndrome

Is 16p11.2 deletion syndrome inherited?

Most cases of 16p11.2 deletion syndrome are not inherited and occur due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo deletion (occurring as a new genetic change for the first time in the affected person).

The inheritance of 16p11.2 deletion syndrome is autosomal dominant because a deletion in only one copy of chromosome 16 in each cell is sufficient to cause the condition. Although affected individuals typically have no history of the condition in their family, they can still pass the condition to their children. There have been several reported cases of the syndrome being inherited. When an affected person has children, each child has a 50% (1 in 2) risk to inherit the deletion.

Last updated on 05-01-20

What is the long-term outlook for people with 16p11.2 deletion syndrome?

We are not aware of long-term follow-up data for people with 16p11.2 deletion syndrome. The long-term outlook (prognosis) for affected people likely depends on the specific features and severity in each person. Some affected people may have congenital abnormalities such as a heart defect, while others have no identifiable signs or symptoms.

Last updated on 05-01-20

Organizations Supporting This Disease

16p11.2 deletion syndrome

Simons VIP Connect is an online community for families with 16p11.2 deletions and duplications. Click on the link to learn more about this community and how to register.

Last updated on 04-27-20

Name: Autism Society of America 4340 East-West Highway, Suite 350
Bethesda, MD, 20814-3067, United States
Phone: 301-657-0881 Toll Free: 800-328-8476 Email: info@autism-society.org Url: http://www.autism-society.org
Name: Autism Speaks 1 East 33rd St. 4th Floor
New York, NY, 10016, United States
Phone: 212-252-8584 Fax : 212-252-8676 Email: contactus@autismspeaks.org Url: http://www.autismspeaks.org
Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
Name: American Association on Intellectual and Developmental Disabilities 501 3rd Street NW Suite 200
Washington, DC, 20001, United States
Phone: (202) 387-1968 Toll Free: (800) 424-3688 Fax : (202) 387-2193 Url: http://www.aaidd.org
Name: Developmental Delay Resources (DDR) 5801 Beacon Street
Pittsburgh, PA, 15217, United States
Toll Free: 800-497-0944 Fax : 412-422-1374 Email: devdelay@mindspring.com Url: http://www.devdelay.org
Name: The Society for Developmental and Behavioral Pediatrics 6728 Old McLean Village Drive
McLean, VA, 22101, United States
Phone: 703-556-9222 Email: info@sdbp.org Url: http://www.sdbp.org/index.cfm
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: http://www.marchofdimes.com/contactus.html Url: http://www.marchofdimes.com/
Name: Simons Searchlight Toll Free: +1-855-329-5638 Fax : +1-570-214-7327 Email: coordinator@simonssearchlight.org Url: https://www.simonssearchlight.org/

Connect with other users with 16p11.2 deletion syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App