"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2011 | 0 | 1 | 1 |
| 2012 | 2 | 2 | 4 |
| 2013 | 0 | 1 | 1 |
| 2016 | 2 | 2 | 4 |
| 2017 | 3 | 0 | 3 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 0 | 1 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Uniparental Disomy" by people in Profiles.
-
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet J Rare Dis. 2021 01 22; 16(1):42.
-
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. Am J Med Genet A. 2019 11; 179(11):2252-2256.
-
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. Front Immunol. 2018; 9:2397.
-
The maternal uniparental disomy of chromosome 6?(upd(6)mat) "phenotype": result of placental trisomy?6?mosaicism? Mol Genet Genomic Med. 2017 11; 5(6):668-677.
-
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. Pediatr Nephrol. 2017 10; 32(10):1989-1992.
-
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself. Clin Genet. 2017 Jul; 92(1):45-51.
-
Recent Advances in Imprinting Disorders. Clin Genet. 2017 01; 91(1):3-13.
-
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. Eur J Hum Genet. 2016 12; 24(12):1724-1729.
-
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. Am J Med Genet B Neuropsychiatr Genet. 2016 09; 171(6):875-8.
-
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. BMC Med Genet. 2016 Mar 11; 17:20.
MeSH information
