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Disease Profile
15q13.3 microduplication syndrome
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)
15q13.3 microduplication; Chromosome 15q13.3 duplication syndrome; Chromosome 15q13.3 microduplication syndrome;
Summary
15q13.3 microduplication
When the duplication is
Symptoms
People with 15q13.3 microduplication syndrome may have
Some children with 15q13.3 microduplication syndrome struggle to sleep at night (insomnia). Other health problems that may be associated with the syndrome include having multiple
The problems associated with 15q13.3 microduplication syndrome can vary widely, even among members of the same family. This concept is called
Cause
It is thought that changes in one of the genes in the region, called CHRNA7, may cause an increased risk for
Diagnosis
Treatment
Other treatments that may be recommended for people with 15q13.3 microduplication syndrome 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
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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/ -
Dup15q Alliance
P.O. Box 1669
Highland Park, IL 60035
Telephone: 855-dup-15qa
E-mail: [email protected]
Website: https://www.dup15q.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: [email protected]
Website: https://www.rarechromo.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
- 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 15q13.3 microduplication syndrome.
In-Depth Information
- PubMed is a searchable database of medical literature and lists journal articles that discuss 15q13.3 microduplication syndrome. Click on the link to view a sample search on this topic.
References
- 15q13.3 microduplications. Unique. 2013; https://www.rarechromo.org/media/information/Chromosome%2015/15q13.3%20microduplications%20FTNW.pdf.
- Xie Y. Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated with Oral Clefts?. Child Neurology Open. October-December 2015; 2(4):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417031/.
- Bacino CA. Microduplication syndromes. UpToDate. December 29, 2017; https://www.uptodate.com/contents/microduplication-syndromes#H12818248.
- Beal JC. Case Report: Neuronal Migration Disorder Associated With Chromosome 15q13.3 Duplication in a Boy With Autism and Seizures. J Child Neurol. December 2014; 29(12):NP186-188. https://www.ncbi.nlm.nih.gov/pubmed/24282185.
- Zhou D, Gochman P, Broadnax DD, Rapoport JL, and Ahn K. 15q13.3 duplication in two patients with childhood-onset schizophrenia. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. September 2016; 171(6):777-783. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069586/.
- Bacchelli E, Battaglia A, Cameli C, Lomartire S, Tancredi R, Thomson S, Sutcliffe JS, and Maestrini E. Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. American Journal of Medical Genetics. Part A. April 2015; 167A(4):715-723. https://www.ncbi.nlm.nih.gov/pubmed/25655306.
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