"Uniparental Disomy" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
| Descriptor ID |
D024182
|
| MeSH Number(s) |
C23.550.210.645.890 G05.365.590.175.935
|
| Concept/Terms |
Uniparental Disomy- Uniparental Disomy
- Disomies, Uniparental
- Uniparental Disomies
- Disomy, Uniparental
Uniparental Heterodisomy- Uniparental Heterodisomy
- Heterodisomies, Uniparental
- Heterodisomy, Uniparental
- Uniparental Heterodisomies
|
Below are MeSH descriptors whose meaning is more general than "Uniparental Disomy".
Below are MeSH descriptors whose meaning is more specific than "Uniparental Disomy".
This graph shows the total number of publications written about "Uniparental Disomy" by people in this website by year, and whether "Uniparental Disomy" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "Uniparental Disomy" by people in Profiles.
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141.
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Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping. Transfusion. 2013 Sep; 53(9):1884.
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Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia. 2013 Jan; 56(1):218-21.
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Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):577-82.
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2001 ASHG Presidential Address. On black boxes and storytellers: lessons learned in human genetics. Am J Hum Genet. 2002 Feb; 70(2):285-96.