uniparental disomy


Also found in: Acronyms, Encyclopedia, Wikipedia.

uniparental disomy

(dī-sō′mē),

UPD

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 ?
-1.4 BMI c/SDS Therapy i nitiation 17.2; 83 /0.96 17.8; 94/1.56 12 months 15.8; 52.5/0.0 15.5; 51.0/0.0 Currently 18.9; 85/1.06 18.0; 87.5/1.15 Therapy duration 6.5 3 (yrs) M = male; F = female; UPD = uniparental disomy; Del = deletion; MT = methylation test; MPH = midparental height; IQ= intelligence quotient; c/SDS) = percentile/standard deviation score Table 2.
Fryns, "Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome," Journal of Medical Genetics, vol.
RSS fits in the TDS model because of genetic aberration (hypomethylation of chromosome 11p15.5 and maternal uniparental disomy for chromosome 7) and genitourinary anomalies (e.g., cryptorchidism, hypospadias, small testes, and penis), which implies that men with RSS are likely to develop testicular cancer.
(2000) Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12.
Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet, 359(9301), 135-136.
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia and craniofacial abnormalities.
In a smaller number of cases, the syndrome is the result of uniparental disomy in which the maternal contribution to chromosome 15q is replicated, replacing the paternal contribution (Knoll, Nicholls, Magenis, & Graham, 1989).
Some 30 percent of cases occur when both chromosome 15s are inherited from the individual's mother, a condition called uniparental disomy or UPD.
In the rest of the individuals with these syndromes, however, researchers couldn't find chromosomal deletions; this led them to suspect uniparental disomy. The 1989 discovery of a double dose of maternal chromosome 15 in six cases of Prader-Willi syndrome stimulated researchers to search for double paternal chromosomes in Angelman's patients, says Judith G.
Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome.
Fetal aneuploidies are a major cause of pregnancy loss (27), hence, achieving full term pregnancy is only possible if the gemmates were fertilized with suitable aneuploid gemmates which will result in Uniparental Disomy (UPD).
However, use of genome-wide DNA single-nucleotide polymorphism microarrays has been critical in identifying abnormalities that are not detectable by conventional G-banding and FISH, such as copy number aberrations and copy-neutral loss of heterozygosity or uniparental disomy. (55-58) In contrast to conventional cytogenetics, the microarray affords examination of the entire genome at the kilobase or gene level.