17q12 duplication

What causes 17q12 duplication?

The signs and symptoms of 17q12 duplication are caused by having an extra piece of genetic information on one of the chromosomes. Most people have 46 chromosomes in each cell of the body, and the chromosomes come in pairs. Therefore, there are two copies of chromosome 17. People with 17q12 duplication have an extra portion of one copy of chromosome 17.

It is not known exactly why the gain of genetic information on chromosome 17 causes the signs and symptoms associated with the duplication. It is also not known why there can be such a wide range of symptoms, with some people not having any symptoms at all.

Last updated on 05-01-20

How is 17q12 duplication diagnosed?

The signs and symptoms of 17q12 duplication overlap greatly with the signs and symptoms of other chromosome duplications or other genetic disorders. Therefore, it would be unlikely that a doctor would suspect a person to have 17q12 duplication based on evaluating a person’s developmental or health history. In most cases, the duplication is diagnosed when a doctor orders a genetic test called a chromosomal microarray (CMA). This test looks for extra or missing pieces of chromosomes. Most people who are diagnosed with 17q12 duplication had a CMA completed based on symptoms such as intellectual disability, developmental delay, or behavioral challenges.

Last updated on 05-01-20

How is 17q12 duplication inherited?

Most people who have 17q12 duplication inherited the chromosomal change from a parent. In many cases, the parent has only mild symptoms of the duplication or no symptoms at all. When a person who has 17q12 duplication has children, for each child there is a:

  • 50% chance to inherit the copy of chromosome 17 with the duplication
  • 50% chance to inherit the copy of chromosome 17 without the duplication

Because the signs and symptoms of 17q12 duplication can vary, the exact signs and symptoms that a child with the duplication may have is not possible to predict.

In some cases, people with 17q12 duplication are the first people in their families to have the duplication. When a duplication is new in a person and is not inherited from either parent, it is called de novo.

Last updated on 05-01-20

What is the long-term outlook for people with 17q12 duplication?

The long-term outlook for people with 17q12 duplication can vary because the symptoms associated with the duplication are variable. Other than some medical problems that may affect the eyes or rarely the kidneys and heart, people with 17q12 duplication are generally healthy. Treatment options such as therapies may be helpful in allowing people with the duplication to reach their full potentials. Based on current understanding of the duplication, it is expected that people with 17q12 duplication will have a normal lifespan.

Last updated on 05-01-20

How might 17q12 duplication be treated?

Treatment for 17q12 duplication typically includes physical, occupational, and speech therapies. Children with the duplication may also require extra help in school. These therapies may help people with the duplication reach their full potentials. Other treatments may include behavioral therapies to manage behavioral differences such as autism.

Other treatments that may be recommended for people with 17q12 duplication include antiepileptic drugs to treat seizures. Evaluations of the eyes, heart, and kidneys may also be recommended to rule out any other health problems.

Last updated on 05-01-20

General Clinical Trials & Research

17q12 Project

17q12 Project is a project through the Geisinger Autism & Developmental Medicine Institute (ADMI) that is dedicated to gaining better understanding of the behavioral, developmental, and medical characteristics associated with extra or missing material in the 17q12 chromosomal region.

Last updated on 04-27-20

Name: Chromosome Disorder Outreach CDO PO Box 724
Boca Raton, FL, 33429 , United States
Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.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: The Arc of the United States 1825 K Street, NW Suite 1200
Washington, DC, DC, 20006, United States
Phone: +1-202-534-3700 Toll Free: 1-(800) 433-5255 Fax : +1-202-534-3731 Email: info@thearc.org Url: https://www.thearc.org/
Name: 17q12 Foundation 520 SE 12TH ST
GRIMES, IA, 50111-4703,
Email: chromosome17q12@gmail.com Url: https://www.chromo17q12.org

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