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Disease Profile

Chromosome 10p 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

-

ICD-10

Q92.2

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 10p; Trisomy 10p; 10p duplication;

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

Chromosome 10p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the duplication and which genes are involved. The size of the duplication can range from a tiny piece of the chromosome arm, to the entire arm. Signs and symptoms that can be present in a person with a 10p duplication may include delay of development, motor skills, or growth; short stature; low muscle tone (hypotonia); abnormalities of the foot (such as clubfoot); cleft lip and/or cleft palate; and distinctive facial features. Other signs and symptoms may include seizures, a heart defect, or other birth defects.[1]

Some 10p duplications are not inherited and occur sporadically (randomly) when egg or sperm cells form, or shortly after the egg and sperm join together. In other cases, the duplication occurs because a parent has a chromosome rearrangement such as a balanced translocation or a pericentric inversion (neither of which usually causes health problems). A chromosome test of both parents can help determine whether the duplication was inherited, and whether future children have an increased chance to have a chromosome abnormality.[1] Treatment is based on the signs and symptoms present in each person.

This page is meant to provide general information about 10p duplications. You can contact GARD if you have questions about a specific duplication on chromosome 10. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.

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

    • MedlinePlus Genetics contains information on Chromosome 10p duplication. This website is maintained by the National Library of Medicine.
    • 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 10p.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • 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 Chromosome 10p duplication. Click on the link to view a sample search on this topic.