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Diseases

Genetic and Rare Diseases Information Center (GARD)

7q11.23 duplication syndrome


Other Names for this Disease
  • Williams-Beuren region duplication syndrome
  • WBS duplication syndrome
  • Chromosome 7q11.23 duplication syndrome
  • Somerville-Van Der AA syndrome
  • Dup(7)(q11.23)
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

7q11.23 duplication syndrome is a chromosome abnormality characterized by a variety of neurological and behavioral differences. It is caused by a small amount of additional (duplicated) genetic material from chromosome 7. Symptoms may include: a speech and language delay, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), and enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation). 7q11.23 duplication syndrome is caused by a duplication of genetic material on the long (q) arm of chromosome 7. Some cases of 7q11.23 duplication syndrome are inherited in an autosomal dominant manner; however, the majority of affected individuals have a new (de novo) duplication. While there is no cure for 7q11.23 duplication, treatment options will depend on the type and severity of symptoms present and may involve several specialists.

Last updated: 7/5/2016

References

  1. 7q11.23 duplication syndrome. Genetics Home Reference. April 2016; https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome.
  2. 7q11.23 duplication syndrome. Unique. 2015; http://www.rarechromo.org/information/Chromosome%20%207/7q11.23%20duplication%20syndrome%20FTNW.pdf.
  3. Carolyn B Mervis, PhD, Colleen A Morris, MD, Bonita P Klein-Tasman, Shelley L Velleman, Lucy R Osborne. 7q11.23 duplication syndrome. GeneReveiws. November 25. 2015; http://www.ncbi.nlm.nih.gov/books/NBK327268/.
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Basic Information

  • Duplication Cares , a non-profit organization, provides information on 7q11.23 duplication syndrome
  • Genetics Home Reference (GHR) contains information on 7q11.23 duplication 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 7q11.23 duplication 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. 
  • 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 7q11.23 duplication syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Williams-Beuren region duplication syndrome
  • WBS duplication syndrome
  • Chromosome 7q11.23 duplication syndrome
  • Somerville-Van Der AA syndrome
  • Dup(7)(q11.23)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.