Chromosome 20 trisomy
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Chromosome 20, trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or all of of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester of pregnancy.[3] The presence of an extra copy of only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence.[2] Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.[1]
References
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Chromosome abnormalities. March of Dimes. December 2009 Available at: http://www.marchofdimes.com/Baby/birthdefects_chromosomal.html. Accessed December 17, 2010.
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Willis MJ, Bird LM, Dell'Aquilla M, Jones MC. Expanding the phenotype of mosaic trisomy 20. American Journal of Medical Genetics. February 1, 2008;146(3):330-336. Available at: http://www.ncbi.nlm.nih.gov/pubmed/18203170. December 17, 2010.
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Mavromatidis G, Dinas K, Delkos D, Vosnakis C, Mamopoulos A, Rousso D. Case of prenatally diagnosed non-mosaic trisomy 20 with minor abnormalities. Journal of Obstetrics and Gynaecology Reearch. August 2010;36(4):866-868. Available at: http://www.ncbi.nlm.nih.gov/pubmed/20666959. December 17, 2010.
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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
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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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