uniparental disomy
Also written as: UPD — uniparental disomy
A condition where both copies of a chromosome pair are inherited from the same parent instead of one from each parent.
Full Definition
Uniparental disomy (UPD) is a genetic condition where an individual receives both homologous chromosomes or chromosome segments from one parent and none from the other parent, rather than the typical one from each parent. This can result in abnormal gene expression due to genomic imprinting effects, where certain genes are expressed differently depending on their parent of origin. UPD can lead to genetic disorders even when the chromosome number appears normal, making it an important consideration in reproductive genetics.
Usage
Usage note: Commonly abbreviated as UPD in genetic reports.
In Context
- "Maternal uniparental disomy of chromosome 15 was confirmed as the cause of Prader-Willi syndrome." — Genetic testing report
- "The laboratory performed UPD analysis after identifying normal chromosomes in a patient with an imprinting disorder." — Diagnostic workup summary