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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 5q deletion


Other Names for this Disease
  • 5q deletion
  • 5q monosomy
  • Deletion 5q
  • Monosomy 5q
  • Partial monosomy 5q
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Overview

Chromosome 5q 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 5. 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 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features.[1] 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.
Last updated: 7/15/2015

References

  1. Deletions including 5q22. Unique. 2014; http://www.rarechromo.org/information/Chromosome%20%205/5q%20deletions%20including%205q22%20FTNW.pdf.
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Basic Information

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 5q deletion. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 5q deletion
  • 5q monosomy
  • Deletion 5q
  • Monosomy 5q
  • Partial monosomy 5q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.