In both groups, the mean frequencies of chromosome 18 disomy
were within the normal range: the means of frequency of diploidy and sex chromosome disomy
were higher than reference values, but only diploidy reached statistical significance (P = 0.
In the rest of the individuals with these syndromes, however, researchers couldn't find chromosomal deletions; this led them to suspect uniparental disomy
Abnormal chromatin structures and DNA strand breaks are correlated with severe forms of morphologically abnormal profiles, such as the combined presence of megalocephaly and multiple tails with disomy
(72) or the incidence of globozoospermia accompanied by increased aneuploidy rates (30).
SNP chips are considered superior for detecting uniparental disomy
and copy neutral loss of heterozygosity.
Of further interest is the report describing uniparental disomy
(UPD), the presence of both chromosomes inherited from 1 parent as the result of disomic rescue (54).
Identification of uniparental disomy
(UPD), through detection of ROH;
CONCLUSIONS: Our findings suggest that exposure to p,p' -DDE may be associated with increased rates of XX, XY, and total sex-chromosome disomy
, whereas exposure to PCBs may be associated with increased rates of YY, XY, and total sex-chromosome disomy
Dopierala et al (11) determined intratumor heterogeneity of chromosomal abnormalities of 1p, 3, 6, and 8 in uveal melanoma by MLPA and showed that this heterogeneity caused equivocal MLPA results, which could be caused by disomy
3 cells diluting the DNA of the monosomy 3 cell clones.
Instead, he stumbled across the first documented case of human uniparental disomy
This is the only two-color CGH platform that can detect loss of heterozygosity/uniparental disomy
(LOH/UPD) with 5- to 10-megabase resolution.
Our data show that women carrying T21 fetuses can be correctly distinguished from women carrying disomy
Because only one chromosome is examined in this assay, diploidy cannot be distinguished from disomy
of chromosome 1.
Alternatively, there may be copy number-neutral loss of heterozygosity (LOH), also known as acquired uniparental disomy
, caused by a mitotic segregation error with loss of one allele and reduplication of the remaining allele or by segmental mitotic recombination between pairs of high-identity, low-copy repeats, among other mechanisms.
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