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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 12q deletion


Other Names for this Disease
  • Deletion 12q
  • Monosomy 12q
  • 12q deletion
  • 12q monosomy
  • Partial monosomy 12q
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Overview

Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located 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 deletion and which genes are involved. Features that often occur in people with chromosome 12q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.[1]
Last updated: 10/7/2015

References

  1. 12q deletions. Unique. 2010; http://www.rarechromo.org/information/Chromosome%2012/12q%20deletions%20FTNW.pdf.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 12q deletion. 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 12q deletions.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 12q deletion. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Deletion 12q
  • Monosomy 12q
  • 12q deletion
  • 12q monosomy
  • Partial monosomy 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.