LP33556-9
Chromosome uniparental disomy
Active
Description
Uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later stage meiosis II error). Because it may lead to the duplication of lethal recessive genes, isodisomy is potentially dangerous, while heterodisomy is essentially benign. Conditions that occur due to UPD include Prader-Willi syndrome (chromosome 15), Angelman syndrome (chromosome 15), and Beckwith-Wiedemann syndrome (chromosome 11). Chromosome 14 is also known to cause particular symptoms such as skeletal abnormalities, mental retardation and joint contractures among others. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Uniparental disomy
Basic Part Properties
- Part Display Name
- Chromosome uniparental disomy
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-05-11
- Construct for LOINC Short Name
- Chr UpDi
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 染色体单亲双体性 Synonyms: 染色体单亲二体型; |
| et-EE | Estonian (Estonia) | Uniparentaalne disoomia |
| es-ES | Spanish (Spain) | Disomía uniparental cromosómica |
| it-IT | Italian (Italy) | Disomia cromosomica uniparentale |
| tr-TR | Turkish (Turkey) | Kromozom uniparental dizomi |
| ru-RU | Russian (Russian Federation) | Хромосома унипарентальная дисомия |
| nl-NL | Dutch (Netherlands) | chromosoom uniparentale disomie |
| pl-PL | Polish (Poland) | Jednorodzicielska disomia chromosomu |
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