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Other Names for this Disease
- Chromosome 11q deletion syndrome
- Partial 11q monosomy syndrome
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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).Jacobsen syndrome is a condition caused by a loss of genetic material from
Last updated: 9/20/2010
- Jacobsen syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/jacobsen-syndrome. Accessed 9/20/2010.
On this page
- Genetics Home Reference (GHR) contains information on Jacobsen syndrome. This website is maintained by the National Library of Medicine.
- 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.
- 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.
In Depth Information
- 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.
- 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.