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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 12q duplication


Other Names for this Disease
  • Duplication 12q
  • Trisomy 12q
  • 12q duplication
  • 12q trisomy
  • Partial trisomy 12q
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Overview

Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. 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 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features.[1][2] Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
Last updated: 12/16/2015

References

  1. Bouman A, Schuitema A, Pfundt R, van de Zande G, Kleefstra T. Clinical delineation of a patient with trisomy 12q23q24. Eur J Med Genet. August 2013; 56(8):463-469.
  2. Peng HH, Wang TH, Hsueh DW, Chang SD, Soong YK. Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome. Prenat Diagn. June 2005; 25(6):470-474.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 12q 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 12q duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Duplication 12q
  • Trisomy 12q
  • 12q duplication
  • 12q trisomy
  • Partial trisomy 12q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.