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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 4q duplication


Other Names for this Disease
  • Duplication 4q
  • Trisomy 4q
  • 4q duplication
  • 4q trisomy
  • Partial trisomy 4q
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Overview

Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.[1]
Last updated: 5/18/2016

References

  1. Duplications of 4q. Unique. 2008; http://www.rarechromo.org/information/Chromosome%20%204/4q%20duplications%20FTNW.pdf.
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Basic Information

  • 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 4q duplication.

In Depth Information

  • 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 4q duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Duplication 4q
  • Trisomy 4q
  • 4q duplication
  • 4q trisomy
  • Partial trisomy 4q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.