this can be sufficient to diagnose certain categories of abnormalities. For example, aneuploidy, which is often caused by the absence or addition of a chromosome, is simple to detect by karyotype ...

Additionally, increased detection of trisomic, triploid, and multiple aneuploid cases in Period B resulted in a significant increase in the percentage of cases with abnormal karyotypes (42.8% in ...

Expert Rev Mol Diagn. 2013;13(6):601-611. In other situations, normal microarray analysis in the presence of an abnormal karyotype, such as marker chromosomes, is reassuring, as it indicates that ...

One hundred four fetuses (3.8%) had an abnormal karyotype. Compared with a normal ultrasonographic examination result a single minor ultrasonographic marker increased the risk of karyotypic ...

Like Klinefelter Syndrome, Turner Syndrome is marked by an abnormal karyotype, 45,XO. While Turner women have female external genitals, the individuals lack properly formed ovaries. Without ...