Rare Rheumatology News

Disease Profile

Chromosome 15q duplication

Prevalence
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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Duplication 15q; Trisomy 15q; 15q duplication;

Categories

Chromosome Disorders

Summary

Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures; high and/or cleft palate (roof of the mouth); scoliosis; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.[1][2][3]

Symptoms

The signs and symptoms of chromosome 15q duplication vary significantly from person to person, depending upon the size and location of the duplication and which genes are involved. Features that may be present in a person with a chromosome 15q duplication include:[1][3][4]

  • Developmental delay
  • Intellectual disability
  • Hypotonia (low muscle tone)
  • Seizures
  • High and/or cleft palate
  • Scoliosis
  • Distinctive facial features
  • Genital abnormalities
  • Feeding difficulties
  • Slow growth
  • Communication difficulties
  • Behavioral and/or emotional problems
  • Autism spectrum disorder
  • Strabismus
  • Abnormalities of the heart, kidney, and/or other organs

Cause

People with chromosome 15q duplication have an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 in each cell. The features associated with the condition vary significantly from person to person depending on the size and location of the duplication and which genes are involved. In many cases, this duplication occurs sporadically as a random event when the egg or the sperm is made. There is nothing that a person can do to cause or prevent this duplication from happening.[1][2][3]

Diagnosis

There are several different specialized tests that can be used to diagnose a chromosome 15q duplication. These include:[5][2]

  • Karyotype a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large duplications.
  • FISH a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for duplications that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 15q.
  • Array CGH a technology that detects duplications that are too small to be seen on karyotype.

Treatment

Because chromosome 15q duplication affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this duplication varies based on the signs and symptoms present in each person. For example, children with delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Speech therapy may be recommended for children with delayed speech. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Surgery may be required to treat certain physical abnormalities such as cleft palate or congenital heart defects, if present.[1][2][3]

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

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

    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 to families and individuals affected by rare chromosome disorders. Click on the link to view information about duplications of 15q.

      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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 15q duplication. Click on the link to view a sample search on this topic.

        References

        1. 15q Duplications. Unique. 2014; https://www.rarechromo.org/information/Chromosome%2015/15q%20duplications%20FTNW.pdf.
        2. Understanding Dup15q. Dup15q Alliance. https://www.dup15q.org/understanding-dup15q/. Accessed 4/6/2015.
        3. Chromosome 15, Distal Trisomy 15q. NORD. 2009; https://rarediseases.org/rare-disease-information/rare-diseases/byID/1101/viewAbstract.
        4. Understanding Dup15q. Dup15q Alliance. https://www.dup15q.org/understanding-dup15q/. Accessed 3/20/2019.
        5. Microarray-based Comparative Genomic Hybridisation (Array CGH). Unique. 2015; https://www.rarechromo.org/information/other/array%20cgh%20ftnw.pdf.

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