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Uniparental Disomy

Known as: Disomy, Uniparental, Uniparental Disomy [Disease/Finding], Uniparental Disomies 
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… 
National Institutes of Health

Related topics

Related topics

11 relations

Narrower (8)

Chromosome 1, uniparental disomy 1q12 q21Chromosome 15, trisomy mosaicismChromosome 8, mosaic trisomyChromosome 9, trisomy mosaic
Pseudovaginal Perineoscrotal Hypospadiasaspects of radiation effectschemically induced

Papers overview

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Highly Cited
2008
Highly Cited
2008
Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray.
Review
2000
Review
2000
Maternal uniparental disomy 7 – review and further delineation of the phenotype
Abstract Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far… 
Review
1997
Review
1997
Paternal uniparental disomy for chromosome 14: a case report and review.
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has… 
Highly Cited
1996
Highly Cited
1996
CYTOGENETIC AND AGE‐DEPENDENT RISK FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY 15
Prader–Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11–q13 or maternal uniparental disomy (UPD… 
Highly Cited
1995
Highly Cited
1995
A Search for Uniparental Disomy in Carriers of Supernumerary Marker Chromosomes
As there is some evidence that individuals bearing supernumerary marker chromosomes (SMCs) might have an increased risk of being… 
1993
1993
Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?
Parental ages associated with both maternal and paternal uniparental disomy (UPD) of chromosome 15 are highly elevated in… 
Highly Cited
1993
Highly Cited
1993
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.
Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We… 
Highly Cited
1992
Highly Cited
1992
Parental origin of chromosomes involved in the translocation t(9;22)
FUNCTIONALLY equivalent genetic material can be labelled by an epigenetic marking process and used differentially depending on… 
Highly Cited
1992
Highly Cited
1992
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21.
1991
1991
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
Genetic imprinting has been implicated in the etiology of two clinically distinct but cytogenetically indistinguishable disorders… 
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