National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

17q12 duplication


Other Names:
Chromosome 17q12 duplication syndrome; 17q12 microduplication syndrome; Trisomy 17q12; Chromosome 17q12 duplication syndrome; 17q12 microduplication syndrome; Trisomy 17q12; Recurrent duplication of 17q12; 17q12 microduplication; Dup(17)(q12) See More
Categories:
This disease is grouped under:
17q12 duplication occurs when a person has an extra copy of a portion of chromosome 17. Our genetic information is organized in structures called chromosomes. People with 17q12 duplication have an extra piece of genetic information from chromosome 17. Some people with this duplication do not have any signs or symptoms. Other people may have symptoms including intellectual disability, developmental delay, and behavioral challenges.[1] Some people with 17q12 duplication may also have vision problems. Rarely, people with 17q12 duplication may also have other health problems, such as problems with the heart or kidneys.[2]

17q12 duplication occurs when a portion of chromosome 17 is duplicated. When the duplication is inherited from a parent, it is inherited in an autosomal dominant manner. The duplication may be suspected if a doctor sees signs and symptoms such as developmental delay, behavioral problems, and intellectual disability. Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis. Treatment options may include physical, occupational, and speech therapies, as well as management by a psychiatrist or psychologist to assist with any behavioral challenges.[2]
Last updated: 3/31/2018
The signs and symptoms of 17q12 duplication most commonly include intellectual disability and developmental delay. Intellectual disability may be mild to severe. Developmental delay means that some children may not reach milestones such as sitting, standing, or walking at the times other children do. Some children with 17q12 duplication also have speech delay. People with the duplication have an increased chance to have behavioral problems including autism and schizophrenia.[1][2]

People with 17q12 duplication typically have a smaller head size than other people (microcephaly). Some people with the duplication may have seizures, abnormalities of brain structures, or vision problems. In rare cases, people with the duplication may have other health concerns such as a heart defect or kidney abnormality.[2]

People with 17q12 duplication may have a wide range of signs and symptoms caused by the duplication. Even people within the same family who have the duplication may have different signs and symptoms from each other. This concept is called variable expressivity. In some cases, people who have 17q12 duplication may not have any signs or symptoms of the duplication at all. This concept is called reduced penetrance.[1]
Last updated: 3/31/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Cortical dysplasia 0002539
5%-29% of people have these symptoms
Abnormal vertebral morphology 0003468
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Brachydactyly
Short fingers or toes
0001156
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Cleft palate
Cleft roof of mouth
0000175
Cleft soft palate 0000185
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Esophageal atresia
Birth defect in which part of esophagus did not develop
0002032
Facial hypotonia
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] 		0000297
Finger syndactyly 0006101
Glaucoma 0000501
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Language impairment 0002463
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Peters anomaly 0000659
Polyhydramnios
High levels of amniotic fluid
0001561
Seizure 0001250
Self-injurious behavior
Self-injurious behaviour
0100716
Smooth philtrum 0000319
Synophrys
Monobrow
Unibrow
[ more ] 		0000664
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Tracheoesophageal fistula 0002575
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ] 		0000325
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
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Last updated: 7/1/2020
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.[1]

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.[2]
Last updated: 3/31/2018
Most people who have 17q12 duplication inherited the chromosomal change from a parent.[1] In many cases, the parent has only mild symptoms of the duplication or no symptoms at all.[2] 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.[2]

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.[2]
Last updated: 3/31/2018
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.[2]
Last updated: 3/31/2018
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.[2]

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.[2]
Last updated: 3/31/2018
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.[3] 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.[3]
Last updated: 3/31/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

General Clinical Trials & Research

  • 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. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on 17q12 duplication. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 17q12 duplication.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 17q12 duplication. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. 17q12 duplication. Genetics Home Reference. April 2017; https://ghr.nlm.nih.gov/condition/17q12-duplication.
  2. Mefford H, Mitchell E, and Hodge J. 17q12 Recurrent Duplication. GeneReviews. February 25, 2016; https://www.ncbi.nlm.nih.gov/books/NBK344340/.
  3. 17q12 microduplications. Unique. 2013; https://www.rarechromo.org/media/information/Chromosome%2017/17q12%20microduplications%20FTNW.pdf.