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Disease Profile
Chromosome 20 trisomy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
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Other names (AKA)
Trisomy chromosome 20; Trisomy 20; Trisomy 20 mosaicism;
Categories
Chromosome Disorders
Summary
Cause
Other types of errors can alter the structure of one or more chromosomes. Individuals with structural chromosomal abnormalities usually have the normal number of chromosomes. However, small pieces of a chromosome (or chromosomes) may be duplicated, and in the case of part of chromosome 20 being duplicated, it would be called partial trisomy 20 (because there are 3 copies of only part of chromosome 20 in each cell).
Errors in cell division involving chromosome 20 can also occur soon after fertilization, which can cause mosaicism, a condition in which an individual has cells with different genetic makeups. Individuals with the mosaic form of trisomy 20 have an extra chromosome 20 in some, but not all, of their cells. Some individuals with chromosomal mosaicism may be mildly affected or apparently not affected at all, but the severity of the condition may depend on the number of abnormal cells that are present. Other individuals may be severely affected.[3]
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Chromosome 20 trisomy. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 20 trisomy. Click on the link to view a sample search on this topic.
References
- 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. https://www.ncbi.nlm.nih.gov/pubmed/20666959.
- 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. https://www.ncbi.nlm.nih.gov/pubmed/18203170.
- Chromosome abnormalities. March of Dimes. February 2013; https://www.marchofdimes.com/Baby/birthdefects_chromosomal.html.
- Trisomy 13. Genetics Home Reference. November 2013; https://ghr.nlm.nih.gov/condition/trisomy-13. Accessed 11/27/2015.
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