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Diseases

Genetic and Rare Diseases Information Center (GARD)

Distal chromosome 18q deletion syndrome


Other Names for this Disease
  • Distal 18q deletion syndrome
  • Distal 18q-
  • Monosomy 18q syndrome
  • Distal 18q deletion
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

Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. 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 distal chromosome 18q deletion syndrome 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 distal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Last updated: 2/17/2016

References

  1. Distal 18q-. The Chromosome 18 Registry and Research Society. http://www.chromosome18.org/18q/distal-18q/. Accessed 2/17/2016.
  2. 18q deletions: from 18q21 and beyond. Unqiue. 2015; http://www.rarechromo.org/information/Chromosome%2018/18q%20deletions%20from%2018q21%20and%20beyond%20FTNW.pdf.
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Basic Information

  • The Chromosome 18 Registry & Research Society is an advocacy organization composed of parents of individuals with chromosome 18 abnormalities. Click on the link above to view their information page on distal 18q deletion syndrome.
  • Genetics Home Reference (GHR) contains information on Distal chromosome 18q deletion 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.
  • 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 Distal chromosome 18q deletion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Distal 18q deletion syndrome
  • Distal 18q-
  • Monosomy 18q syndrome
  • Distal 18q deletion
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.