loading...| Preferred Name |
Uniparental disomy |
| Definitions |
Inheritance of both homologues of a chromosome pair from the same parent. UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. |
| ID |
http://purl.obolibrary.org/obo/HP_0032382 |
| comment |
UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. |
| created_by |
peter |
| date |
2019-02-24T14:58:52Z |
| definition |
Inheritance of both homologues of a chromosome pair from the same parent. |
| has_obo_namespace |
human_phenotype |
| id |
HP:0032382 |
| label |
Uniparental disomy |
| notation |
HP:0032382 |
| prefLabel |
Uniparental disomy |
| treeView | |
| subClassOf |