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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 16p13.3 deletion syndrome


Other Names for this Disease
  • 16p13.3 deletion syndrome
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Overview

Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, serious organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections.[1][2][3] 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.[2] However, sometimes one parent has 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.

To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.
Last updated: 2/8/2016

References

  1. CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL. OMIM. July 2015; http://www.omim.org/entry/610543.
  2. 16p13 deletions. Unique. 2007; http://www.rarechromo.org/information/Chromosome%2016/16p13%20deletions%20FTNW.pdf.
  3. Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. September 2006; 120(2):179-186.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 16p13.3 deletion syndrome. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Chromosome 16p13.3 deletion syndrome.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 16p13.3 deletion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 16p13.3 deletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.