Other Names for this Disease
- Chromosome 11q deletion syndrome
- Partial 11q monosomy syndrome
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deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment. Other features may include compulsive behavior; attention deficit-hyperactivity disorder (ADHD); congenital heart defects; short stature; and/or skeletal abnormalities. In most cases, the deletion that causes Jacobsen syndrome is not inherited and occurs randomly due to an error in cell division. In some cases, an affected person inherits the deletion from an unaffected parent with a balanced translocation. Treatment depends on the specific symptoms in each affected person.Jacobsen syndrome is a condition characterized by the
Last updated: 6/22/2015
- Jacobsen syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/jacobsen-syndrome.
- Genetics Home Reference (GHR) contains information on Jacobsen syndrome. This website is maintained by the National Library of Medicine.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 Jacobsen syndrome. Click on the link to view a sample search on this topic.