Chromosome 18p tetrasomy

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U.S. Department of Health & Human Services

Genetic and Rare Diseases Information Center (GARD)

Tetrasomy 18p
Tetrasomy chromosome 18p
Isochromosome 18p

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Chromosome 18p tetrasomy
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Tetrasomy 18p is a chromosomal disorder in which the short arm of the 18th chromosome (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body.^[1]^[2] The symptoms of tetrasomy 18p vary from case to case but may include craniofacial abnormalities; malformations of the spine, hands, or feet; neuromuscular abnormalities; kidney malformations; moderate to severe mental retardation; limitations in speech; and/or behavioral abnormalities. In most cases, tetrasomy 18p is the result of a spontaneous (de novo) genetic change (mutation) early in embryonic development that occurs for unknown reasons (sporadic).^[1]

References

Chromosome 18, Tetrasomy 18p. National Organization for Rare Disorders (NORD). 2001 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Chromosome%2018%2C%20Tetrasomy%2018p. Accessed March 13, 2009.
Tetrasomy 18p. Chromosome 18 Registry and Research Society. 2008 Available at: http://www.chromosome18.org/Conditions/Tetrasomy18p/tabid/129/Default.aspx. Accessed March 13, 2009.

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More Detailed Information	Organizations	Services	Scientific Conferences	Clinical Trials & Research


More Detailed Information (Found 5 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer General The Chromosome 18 Registry & Research Society is an advocacy organization composed of parents of individuals with chromosome 18 abnormalities. Click on the link above to view their information page on tetrasomy 18p. Genetics Home Reference (GHR) contains information on Chromosome 18p tetrasomy. Click on the link to go to GHR and review the information. 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 database dedicated to 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 Chromosome 18p tetrasomy. Click on the link to view a sample search on this topic.

More Detailed Information (Found 5 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

General
- The Chromosome 18 Registry & Research Society is an advocacy organization composed of parents of individuals with chromosome 18 abnormalities. Click on the link above to view their information page on tetrasomy 18p.
- Genetics Home Reference (GHR) contains information on Chromosome 18p tetrasomy. Click on the link to go to GHR and review the information.
- 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 database dedicated to 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 Chromosome 18p tetrasomy. Click on the link to view a sample search on this topic.

Organizations Providing General Support \| Social Networking Websites
Organizations (Found 10 resources) Groups providing a wide range of services, supportive resources, and information. Disclaimer Chromosome 18 Registry & Research Society 7155 Oakridge Drive San Antonio, Texas 78229 Telephone/Fax: 210-657-4968 E-mail: Office@Chromosome18.org Web site: http://www.chromosome18.org/ Tetrasomy 18p Canada Web: http://www.tetrasomy18p.ca/ Chromosome Disorder Outreach PO Box 724 Boca Raton, FL 33429 Telephone: 561-395-4252 E-mail: info@chromodisorder.org Web site: http://www.chromodisorder.org Unique – Rare Chromosome Disorder Support Group P.O. Box 2189 Caterham Surrey CR3 5GN United Kingdom Telephone: 440 1883 330766 E-mail: info@rarechromo.org Web site: http://www.rarechromo.org Organizations Providing General Support Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org March of Dimes 1275 Mamaroneck Avenue White Plains, NY 10605 Toll-free: 1-888-663-4637 Telephone: 914-997-4488 Fax: 914-997-4763 Online e-mail: http://www.marchofdimes.com/contactus.html Web site: http://www.marchofdimes.com National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Networking Websites DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.

Organizations Providing General Support | Social Networking Websites

Organizations (Found 10 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer

- Chromosome 18 Registry & Research Society
  7155 Oakridge Drive
  San Antonio, Texas 78229
  Telephone/Fax: 210-657-4968
  E-mail: Office@Chromosome18.org
  Web site: http://www.chromosome18.org/
- Tetrasomy 18p Canada
  Web: http://www.tetrasomy18p.ca/
- Chromosome Disorder Outreach
  PO Box 724
  Boca Raton, FL 33429
  Telephone: 561-395-4252
  E-mail: info@chromodisorder.org
  Web site: http://www.chromodisorder.org
- Unique – Rare Chromosome Disorder Support Group
  P.O. Box 2189
  Caterham
  Surrey CR3 5GN
  United Kingdom
  Telephone: 440 1883 330766
  E-mail: info@rarechromo.org
  Web site: http://www.rarechromo.org
Organizations Providing General Support
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- March of Dimes
  1275 Mamaroneck Avenue
  White Plains, NY 10605
  Toll-free: 1-888-663-4637
  Telephone: 914-997-4488
  Fax: 914-997-4763
  Online e-mail: http://www.marchofdimes.com/contactus.html
  Web site: http://www.marchofdimes.com
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Networking Websites
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.


Services (Found 2 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer 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. Parent Resources The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

- 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.
Parent Resources
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.


Scientific Conferences (Found 3 resources) Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer Past Conferences 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. 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. 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.

Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

Past Conferences
- 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.
- 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.
- 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.


Clinical Trials & Research (Found 2 resources) Resources where you may find research studies and clinical trials. Disclaimer NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials. Disclaimer

- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.