karyotípiák

A karyotípiák, or karyotypes, refers to the complete set of chromosomes in a cell or organism. It is essentially a photograph or diagram of a person's or organism's chromosomes, arranged in homologous pairs according to size, shape, and banding pattern. Human cells typically have 23 pairs of chromosomes, totaling 46. These include 22 pairs of autosomes and one pair of sex chromosomes (XX for females and XY for males). The study of karyotypes is known as karyotyping.

Karyotyping is a valuable diagnostic tool used in genetics and medicine. It can identify chromosomal abnormalities, such as aneuploidies (an abnormal number of chromosomes) and structural rearrangements (deletions, duplications, translocations, and inversions). These abnormalities can be associated with various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY). Karyotyping is often performed on fetal cells obtained through prenatal testing like amniocentesis or chorionic villus sampling, as well as on cells from individuals suspected of having a genetic condition. The process typically involves culturing cells, arresting them during metaphase when chromosomes are most condensed, and then staining and photographing them. The resulting image is then analyzed to determine the chromosome count and structure.