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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 6q duplication


Other Names for this Disease
  • 6q duplication
  • 6q trisomy
  • Duplication 6q
  • Partial trisomy 6q
  • Trisomy 6q
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Overview

Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication.[1] Treatment is based on the signs and symptoms present in each person.
Last updated: 8/5/2015

References

  1. Duplications of 6q. Unique. 2010; http://www.rarechromo.org/information/Chromosome%20%206/6q%20duplications%20FTNW.pdf.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 6q 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 Chromosome 6q duplication.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 6q duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 6q duplication
  • 6q trisomy
  • Duplication 6q
  • Partial trisomy 6q
  • Trisomy 6q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.