How Karyotyping is Performed to Diagnose Genetic Disorders

<p>Karyotyping is a type of genetic test performed to diagnose chromosomal abnormalities. Chromosomal abnormalities include trisomies (an extra chromosome, such as in Down syndrome), monosomies (a missing chromosome, such as in Turner syndrome), and the duplication, deletion, or translocation of portions of chromosomes. It can explain the presence of a developmental syndrome, assess cancer risk, and offer information for risk assessments during pregnancy and can be performed regardless of age.</p> <h1>How a sample is obtained for karyotyping</h1> <p>Samples can be taken from amniotic fluid or chorionic villus to obtain chromosomal information on a fetus, or from various samples in children and adults, including tumor biopsies, bone marrow, or blood. The cells are cultured and then arrested during mitosis &mdash; specifically in metaphase by treating with colchicine. The nuclear membrane is destroyed to release the DNA it contains and then fixed and stained to visualize the chromosome structures.</p> <p><a href="https://medium.com/maeflowers/how-karyotyping-is-performed-to-diagnose-genetic-disorders-bb903c0230f8"><strong>Visit Now</strong></a></p>