RT Book, Section A1 Laposata, Michael A1 McCaffrey, Peter SR Print(0) ID 1187001338 T1 Methods Involving Chromosomal Analysis and Molecular Genetics T2 Clinical Laboratory Methods: Atlas of Commonly Performed Tests YR 2022 FD 2022 PB McGraw Hill, LLC PP New York, NY SN 9781260470284 LK accessmedicine.mhmedical.com/content.aspx?aid=1187001338 RD 2024/03/29 AB A karyotype analysis involves the use of fresh viable tissue cells grown in culture and arrested in the stage of cell division known as metaphase. In metaphase, the chromosomes condense and become distinguishable from the other chromosomes, as they align in the center of the dividing cell. The process of karyotyping involves the pairing and ordering of all the chromosomes, providing a genome-wide view of the individual’s chromosomes. The karyotype can reveal missing chromosomes, extra chromosomes, or deletions, duplications, and translocations of parts of chromosomes. A common abnormality which can be identified by karyotyping is Down syndrome in which there is trisomy of chromosome 21. Other commonly identified disorders using karyotyping include Turner syndrome, Klinefelter syndrome, and fragile X syndrome.