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Related to disomy: trisomy, Prader Willi syndrome


1. The state of an individual or cell having two members of a pair of homologous chromosomes; the normal state in humans, in contrast to monosomy and trisomy.
2. An abnormal chromosome represented twice in a single cell.
[G. dis, two, + sōma, body]
References in periodicals archive ?
Regarding FISH data (Table III), in group I the mean frequency per centage of sex chromosome disomy and diploidy was significantly reduced after stress therapy treatment.
Because uniparental disomy is rare, Malcolm says, these parents can be assured that the syndromes "would be unlikely to recur.
In another case, sequencing results suggested trisomy 22; this led to the identification of trisomy 22 in 3 placental biopsy sites with disomy 22 in the cord blood.
Although smaller regions of ROH can arise due to consanguinity or shared parental ancestry, (3) the most common cause of ROH is uniparental disomy, occurring when both copies of a chromosome are inherited from a single parent.
OBJECTIVES: We evaluated the association of polychlorinated biphenyl (PCB) and dichlorodiphenyldichloroethylene (p,p'-DDE) exposures with sperm sex-chromosome disomy.
Distribution of Chromosome 3 Status and Clinical and Pathologic Features of 50 Cases of Uveal Melanoma (a) Total Standard Cytogenetic Testing (b) Disomy Monosomy P Value Clinicopathologic Factors No.
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.
We did nor find associations with aneuploidy of chromosome 1; however, the sperm ACM-FISH assay does not effectively distinguish between disomy 1 and diploidy (Sloter et al.
For example, acquired uniparental disomy does not cause any genomic copy-number changes but, instead, reflects allele-based changes (in other words, the changes are copy-number neutral).
Different than FISH technologies, array-comparative genomic hybridization (CGH), or other karyotyping solutions, Illumina's DNA Analysis products offer quick and cost effective screening for single-nucleotide polymorphisms (SNPs) associated with diseases, structural variation, and copy-neutral loss of heterozygosity (LOH) events such as uniparental disomy (UPD), which are undetectable on current array-CGH products.
In addition to determining copy number, the method can also reconstruct haplotypes and potentially identify abnormalities that escape detection using counting methods, such as triploidy and uniparental disomy.
A total of 24 plasma samples was included in this retrospective study, including 20 samples from singleton pregnancies, consisting of 11 cases (5 female and 6 male fetuses) of T21, 9 cases of disomy (D21) pregnancies (1 female and 8 male fetuses), and 4 plasma control samples from anonymous adult male blood donors.