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To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 ...
We found that chromosomal microarray analysis detected the chromosomal imbalances that were identified by chromosome analysis with the exception of six cases (0.16%) that had mosaic abnormalities.
Shaffer et al. found mosaic results in 0.5% of prenatal microarray cases, with three out of 23 mosaic results considered to be artifacts after further testing.
Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it de ...
One other was recorded as mosaic 47,XXY on microarray. ... Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenat Diagn 2012;32:389-395.
Certain developmental signals shape not only the human embryo but also play a significant role in maintaining our genetic ...
In addition, about 2.5 percent of samples with a normal karyotype had microarray results that revealed missing or repeated sections of genetic code that could result in a genetic disease.
In blood, loss of the Y chromosome in some cells is the most commonly observed mosaicism, but there are countless other examples. In women, some blood cells lose one X chromosome .
Although genetics are ... YY syndrome, and 46,XY/47,XYY mosaicism. The genetic alteration occurs in one out of 1,000 male babies and can be traced back ... Chromosomal microarray test, ...
This condition – known as mosaic loss of Y chromosome, or mLOY – is a major risk factor for heart failure and cardiac fibrosis in men growing older, according to the study, ...
She and Doyle had genetic testing done, and were told that the fetus had tested positive for trisomy 21, a type of Down syndrome, a condition in which individuals have an extra copy of a chromosome.
Advancements in technologies have revolutionized the genetic landscape. Chromosomal microarray analysis (CMA) becomes a proven method and is implemented to detect gains and losses of DNA and absence ...
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