Karyotüpeerimine

Karyotüpeerimine, also known as karyotyping, is a laboratory technique used to examine an individual's chromosomes. Chromosomes are thread-like structures found within the nucleus of most living cells that carry genetic information in the form of genes. Karyotüpeerimine involves obtaining a sample of cells, typically from blood, but can also be from amniotic fluid or bone marrow. These cells are then cultured to encourage division. During a specific stage of cell division, when the chromosomes are most condensed and visible, the cells are arrested. The chromosomes are then stained to make them visible and photographed under a microscope. These photographs are then cut out and arranged in a specific order, from largest to smallest, to create a karyotype. This ordered display allows for the visual inspection of the number and structure of a person's chromosomes. Deviations from the normal human karyotype, which consists of 23 pairs of chromosomes (22 pairs of autosomes and one pair of sex chromosomes, XX for females and XY for males), can indicate genetic disorders. Karyotüpeerimine is a diagnostic tool used to identify chromosomal abnormalities such as aneuploidies (an abnormal number of chromosomes, like in Down syndrome) and structural rearrangements (like translocations or deletions). It plays a crucial role in prenatal diagnosis, genetic counseling, and the study of certain cancers.