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

Chromosome 10q duplication


Other Names:
Duplication 10q; Trisomy 10q; 10q duplication; Duplication 10q; Trisomy 10q; 10q duplication; 10q trisomy; Partial trisomy 10q See More
Categories:
Chromosome 10q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 10. The severity and the specific signs and symptoms depend on the size and location of the duplication and which genes are involved. Signs and symptoms that can be present in a person with a 10q duplication may include growth delay, short stature, a small head size, low muscle tone (hypotonia), developmental delay, and intellectual disability. Other signs and symptoms may include problems with the eyes, heart defects, unusual features of the hands and feet, distinctive facial features, cleft palate, and/or other birth defects.[1][2]

Many 10q duplications in a child result from a chromosome rearrangement in one of the parents, called a balanced translocation (which usually causes no health problems).[1][2] When a parent has a balanced translocation, the child may also have a loss of material from another chromosome (called a deletion).[1] In some cases, a 10q duplication is not inherited and occurs sporadically when egg or sperm cells form, or shortly after the egg and sperm join together. 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 10q 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. 
Last updated: 5/28/2018

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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 Chromosome 10q duplication. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • 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 10q.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 10q duplication. Click on the link to view a sample search on this topic.

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  1. Duplications of 10q. Unique. 2009; https://www.rarechromo.org/media/information/Chromosome%2010/10q%20duplications%20FTNW.pdf.
  2. Chromosome 10, Distal Trisomy 10q. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/chromosome-10-distal-trisomy-10q/.