National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 12q deletion


Other Names:
Deletion 12q; Monosomy 12q; 12q deletion; Deletion 12q; Monosomy 12q; 12q deletion; 12q monosomy; Partial monosomy 12q See More
Categories:
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

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Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

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