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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 16q deletion


Other Names for this Disease
  • Deletion 16q
  • Monosomy 16q
  • 16q deletion
  • 16q monosomy
  • Partial monosomy 16q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. 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 16q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1][2] Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person.

This page is meant to provide general information about 16p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Last updated: 2/9/2016

References

  1. 16q deletions. Unique. 2007; http://www.rarechromo.org/information/Chromosome%2016/16q%20Deletions%20FTNW.pdf.
  2. Doco-Fenzy M, Elchardus JF, Brami G, Digeon B, Gruson N, Adnet JJ. Multiple critical smallest region of overlap in monosomy 16Q syndrome?. Genet Couns. 1994; 5(1):39-44.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 16q 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 16q deletions.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 16q deletion. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Deletion 16q
  • Monosomy 16q
  • 16q deletion
  • 16q monosomy
  • Partial monosomy 16q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.