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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]
References
- Jacobsen syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/jacobsen-syndrome. Accessed September 20, 2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Jacobsen syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Jacobsen syndrome. Click on the link to go to GHR and review the information.
- Unique - the Rare Chromosome Disorder Support Group - is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information related to Jacobsen syndrome.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Jacobsen syndrome. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet Journal of Rare Diseases. 2009; 4:9.