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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 4p duplication


Other Names for this Disease
  • 4p duplication
  • 4p trisomy
  • Duplication 4p
  • Duplication of the short arm of chromosome 4
  • Partial trisomy 4p
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Overview

Chromosome 4p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 4. 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 4p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1] Although some cases occur sporadically, most are inherited from a parent who has a balanced translocation. Treatment is based on the signs and symptoms present in each person.
Last updated: 6/15/2015

References

  1. 4p duplications. Unique. 2014; http://www.rarechromo.org/information/Chromosome%20%204/4p%20Duplications%20FTNW.pdf.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 4p 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 4p.

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