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Disease Profile
17q12 duplication
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Chromosome 17q12 duplication syndrome; 17q12 microduplication syndrome; Trisomy 17q12;
Categories
Congenital and Genetic Diseases
Summary
17q12
17q12 duplication occurs when a portion of chromosome 17 is duplicated. When the duplication is
Symptoms
People with 17q12 duplication typically have a smaller head size than other people (
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
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.
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 |
Short fingers or toes
|
0001156 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
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 |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 |
Finger |
0006101 | |
0000501 | ||
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Language impairment | 0002463 | |
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 | ||
0000006 |
Cause
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]
Diagnosis
Treatment
Other treatments that may be recommended for people with 17q12 duplication include antiepileptic drugs to treat
Organizations
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
-
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/
Organizations Providing General Support
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The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC, DC 20006
Toll-free: 1-(800) 433-5255
Telephone: +1-202-534-3700
Fax: +1-202-534-3731
E-mail: info@thearc.org
Website: https://www.thearc.org/
Learn more
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.
References
- 17q12 duplication. Genetics Home Reference. April 2017; https://ghr.nlm.nih.gov/condition/17q12-duplication.
- Mefford H, Mitchell E, and Hodge J. 17q12 Recurrent Duplication. GeneReviews. February 25, 2016; https://www.ncbi.nlm.nih.gov/books/NBK344340/.
- 17q12 microduplications. Unique. 2013; https://www.rarechromo.org/media/information/Chromosome%2017/17q12%20microduplications%20FTNW.pdf.
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