3p deletion syndrome
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3p deletion syndrome is a rare chromosome disorder characterized by the deletion of part of the short arm of chromosome 3 (3p). Signs and symptoms reported have been variable; some individuals have been described as normal or having mild signs, while most individuals have been more severely affected. Characteristic features of the condition include low birth weight, microcephaly, trigonocephaly, hypotonia, intellectual disability, growth delay, ptosis of the eye, and micrognathia. Other features that may be seen include polydactyly, renal anomalies, congenital heart defects, ear anomalies, and gastrointestinal tract anomalies. The loss of several genes on the deleted part of the chromosome is responsible for the features observed in the condition, with the range and nature of features sometimes depending upon the size of the deleted segment.[1] The loss of a "critical region" at 3p25 is thought to be the cause of many of the features that are commonly present in individuals with 3p deletion syndrome. The deletion usually occurs for the first time in the affected individual (as a de novo mutation) but it may also be inherited from a parent with a balanced translocation, or more rarely, from a seemingly unaffected parent with the same deletion.[1]
References
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Jennifer Takagishi, Katherine A. Rauen, Timothy Drumheller, Boris Kousseff, Maxine Sutcliffe. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. American Journal of Medical Genetics. July 15, 2006;140A(14):1587-1593;
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3p deletion syndrome
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More Detailed Information (Found 3 resources)
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General
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Genetics Home Reference (GHR) contains information on 3p deletion syndrome. Click on the link to go to GHR and review the information.
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PubMed is a searchable database of medical literature and lists journal articles that discuss 3p deletion syndrome. Click on the link to view a sample search on this topic.
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Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 3p25 deletions.
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Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
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Past Conferences
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RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
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2010 Genetic Alliance Annual Conference , July 15, 2010 - July 18, 2010
Location: Bethesda North Marriott Hotel and Conference Center, Bethesda, Maryland
Description: The Genetic Alliance Annual Conference is consistently inspirational and enables partnership among all stakeholders: advocates and community leaders, health and industry professionals, policymakers and academicians.
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VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires
Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
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