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Genetic and Rare Diseases Information Center (GARD)

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Chromosome 3p duplication


Other Names for this Disease

  • 3p duplication
  • 3p trisomy
  • Duplication 3p
  • Partial trisomy 3p
  • Trisomy 3p
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Overview

Chromosome 3, trisomy 3p is a chromosome abnormality characterized by an individual having an extra copy of one of the short arms (or part of the short arm) of chromosome 3 (3p), thus having 3 copies (a trisomy) of the chromosome segment involved instead of the normal two copies. The most common features associated with the condition are intellectual disabilities; slow psycho-motor development; broad head (brachycephaly); prominent forehead (frontal bossing); square-shaped face; wide-set eyes (hypertelorism); epicanthic folds; full cheeks; short prominent philtrum; micrognathia and retrognathia; short neck; and congenital heart defects.[1] Depending on the nature and severity of features, life expectancy may be shortened. The presence of an extra copy of specific genes causes the features of the condition. It is usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child.[2964]
Last updated: 2/1/2011

References

  1. Suzanne Braga and Angela Schmidt. Clinical and Cytogenetic Spectrum of Duplication 3p. European Journal of Pediatrics. 1982; 138:195-197.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 3p duplication. This website is maintained by the National Library of Medicine.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 3p duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 3p duplication
  • 3p trisomy
  • Duplication 3p
  • Partial trisomy 3p
  • Trisomy 3p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.