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Diseases

Genetic and Rare Diseases Information Center (GARD)

16q24.3 microdeletion syndrome


Other Names for this Disease
  • Del(16)(q24.3)
  • Monosomy 16q24.3
  • Chromosome 16q24.3 microdeletion 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.

Overview

16q24.3 microdeletion 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 q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder.[1][2][3] Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly.[1] 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 microdeletion. 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. 16q24.3 microdeletion syndrome. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250.
  2. Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. April 2010; 18(4):429-435.
  3. Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. Am J Med Genet A. April 2013; 161A(4):835-840.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 16q24.3 microdeletion syndrome. This website is maintained by the National Library of Medicine.

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 16q24.3 microdeletion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Del(16)(q24.3)
  • Monosomy 16q24.3
  • Chromosome 16q24.3 microdeletion 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.