uniparental disomy

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uniparental disomy



The inheritance of two copies of a chromosome from one parent and none from the other parent. UPD results in a normal number of inherited chromosomes but with inadequate contribution of genetic material from one of the parents. It may result in the expression of recessive genes, as in Prader-Willi syndrome.

uniparental disomy (UPD)

inheritance by offspring of two copies of an homologous chromosome pair from one parent (uniparental) and none from the other parent. Paternal UPD is where both copies are inherited from the father and none from the mother, maternal UPD is where both copies are from the mother and none from the father. There can be two copies of the same chromosome (isodisomy) or one copy of each of the particular parent's chromosomes (heterodisomy). UPD is due to abnormal assortment of chromosomes as a result of NONDISJUNCTION in MEIOSIS and occurs rarely. Health problems associated with UPD include autosomal recessive disorders, such as CYSTIC FIBROSIS, and disorders involving GENOMIC IMPRINTING such as Prader-Willi Syndrome

Uniparental disomy

Chromosome abnormality in which both chromosomes in a pair are inherited from the same parent.
Mentioned in: Prader-Willi Syndrome
References in periodicals archive ?
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.
Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy.
Because uniparental disomy is rare, Malcolm says, these parents can be assured that the syndromes "would be unlikely to recur.
But a growing body of evidence now has geneticists suspecting that uniparental disomy may be more common than originally thought and may underlie a whole range of inherited disorders.
In contrast to aCGH, FISH, and conventional cytogenetic studies, single nucleotide polymorphism (SNP) arrays can identify uniparental disomy (UPD) (1, 9).
Placental mesenchymal dysplasia is also frequently associated with Beckwith-Wiedemann syndrome, transient neonatal diabetes mellitus, paternal uniparental disomy 6, trisomy 13, and Klinefelter syndrome.
These include cytogenetic abnormalities, genetic abnormalities [11p 15 [11, 12] paternal uniparental disomy (UPD), mutations in the CDKN1C gene], epigenetic abnormalities [H19 gene, KCNQ1OT1 gene & microdeletions within IC1 or IC2.
Identification of uniparental disomy (UPD), through detection of ROH;
The two cystic fibrosis cases represent the first reported examples of uniparental disomy -- the inheritance of both chromosomes in a pair from the same parent.
NASDAQ:ILMN) today announced that researchers at Baylor College of Medicine's Medical Genetics Laboratories will use Illumina's Infinium[R] High-Density (HD) DNA Analysis products to study genomic imprinting and its role in developmental diseases such as Prader-Willi syndrome (PWS), Angelman syndrome (AS), and other disorders caused by uniparental disomy.
In addition to a high level of resolution, a single-nucleotide polymorphism array provides a better appreciation of copy-number neutral loss of heterozygosity or uniparental disomy (UPD).
Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.