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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Duplication 18p
  • Trisomy 18p
  • 18p duplication
  • 18p trisomy
  • Partial trisomy 18p
Home > Rare Diseases and Related Terms > Chromosome 18p duplication



Chromosome 18p duplication
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Trisomy 18p is a rare chromosomal abnormality in which there are three copies of the p arm of chromosome 18 in each cell, rather than the usual two copies. As a quick review, chromosomes are structures that hold our DNA. Our DNA contains the instructions, called genes, which tell our bodies how to develop and function. Each chromosome has a constriction, called the "centromere", at one point along its length dividing it into a shorter arm which is called the p (petite) arm and a longer arm, called the q arm. We have two copies of each chromosome, one copy inherited from our mother and the other copy from our father. Therefore, people typically have two copies of chromosome 18, one from mom and one from dad, and thus two copies of the p arm of chromosome 18. (Click here to read more about chromosomes.) 

Trisomy 18p has rarely been reported. According to Mabboux et al. (2007) only 21 cases have been documented in the medical literature.[2] The signs and symptoms vary greatly from person to person and is characterized by mental retardation, foot or hand anomalies and craniofacial anomalies. Treatment is based on the specific findings present.[2]

 


References
  1. Rodríguez L, Liehr T, Mrasek K, Mansilla E, Martínez-Fernández ML, Garcia A, Martínez-Frías ML. Small Supernumerary Chromosome Marker Generating Complete and Pure Trisomy 18p, Characterized by Molecular Cytogenetic Techniques and Review. American Journal of Medical Genetics Part A. 2007.
  2. Mabboux P, Brisset S, Aboura A, Pineau D, Kourbi V, Joannidis S et al. Pure and Complete Trisomy 18p Due to a Supernumerary Marker Chromosome Associated with Moderate Mental Retardation. American Journal of Medical Genetics Part A. 2007.
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A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Chromosome 18p duplication click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 
More Detailed Information (Found 4 resources)
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  • General

    • The National Human Genome Research Institute, part of the National Institutes of Health (NIH), has developed a fact sheet on chromosome abnormalities, which may be helpful to you. To read this information, visit the link.

      MedlinePlus, the National Library of Medicine Web site designed to direct you to information and resources that help you research your health questions, provides further information about chromosomes. Click on the link.
    • Genetics Home Reference (GHR) contains information on Chromosome 18p duplication. Click on the link to go to GHR and review the information.
    • 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 duplication. Click on the link to view a sample search on this topic.
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Organizations (Found 10 resources)
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 Genetic Services | Parent Resources
Services (Found 3 resources)
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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.

  • Genetic Services

    • You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:  

  • 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)
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  • 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 3 resources)
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    • The National Human Genome Research Institute (NHGRI) has completed an evaluation of patients with unresolved chromosomal abnormalities. Through this study, the NHGRI may have discovered information pertinent to this chromosomal disorder. Further information about this study can be accessed through ClinicalTrials.gov, a database developed by the U.S. National Institutes of Health, through the National Library of Medicine to provide patients, family members, and members of the public with current information on clinical research studies. To read about this study, click here. After you click on the study, review its information to determine if it provides you with useful information. Use the study’s contact information to learn more. Check this site often for regular updates or to search for specific chromosome abnormalities.

      To locate information resulting from the completed study entitled "Evaluation of Patients with Unresolved Chromosome Abnormalities" (study ID numbers 970045, 97-HG-0045; NLM Identifier NCT00001639), you can e-mail the National Library of Medicine (NLM) Customer Service at custserv@nlm.nih.gov.  Include the title of the study, the study ID numbers, and the NLM Identifier, and a librarian at NLM can assist you in searching the medical literature for published results on the completed clinical trial.  
    • 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.

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