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Genetic and Rare Diseases Information Center (GARD)

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Jacobsen syndrome


Other Names for this Disease
  • Chromosome 11q deletion syndrome
  • JBS
  • Partial 11q monosomy syndrome
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Overview


Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development of motor skills and speech, cognitive impairment and learning difficulties, distinctive facial features, and a bleeding disorder called Paris-Trousseau syndrome. Many also have behavioral problems and attention deficit-hyperactivity disorder (ADHD).[1]
Last updated: 9/20/2010

References

  1. Jacobsen syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/jacobsen-syndrome. Accessed 9/20/2010.
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2 question(s) from the public on Jacobsen syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Jacobsen syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet Journal of Rare Diseases. 2009; 4:9.