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Diseases

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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Cause


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What causes chromosome 3, trisomy 3p?

The presence of the extra genetic material in the cells of an individual with trisomy 3p causes the clinical features (phenotype) of the condition. Researchers have concluded that although affected individuals differ with regards to the amount of extra material they have, there seems to be a specific "region" on the short arm of chromosome 3 (3p) that is responsible for the common features observed in affected individuals; this region is referred to as 3p25-~3pter.[1] To learn more about chromosomes and the terminology regarding chromosome abnormalities, click here.
Last updated: 2/1/2011

References
  1. Joel Charrow, Maimon M. Cohen, and Diana Meeker. Duplication 3p Syndrome: Report of a New Case and Review of the Literature. American Journal of Medical Genetics. 1981; 8:431-436.