Karotyyppi

Karotyyppi, also known as karyotype, refers to the complete set of chromosomes in a cell of an organism. It is essentially a person's chromosome complement. Humans typically have 23 pairs of chromosomes, totaling 46. Twenty-two of these pairs are autosomes, which are numbered 1 through 22, and the remaining pair are sex chromosomes, which determine an individual's biological sex. Females typically have two X chromosomes (XX), while males typically have one X and one Y chromosome (XY).

The study of karotyyppi, called cytogenetics, involves examining the number and structure of chromosomes. This can be done by taking a sample of cells, such as blood, and culturing them to encourage cell division. During a specific stage of cell division called metaphase, chromosomes are most condensed and visible. They are then stained and photographed under a microscope. The chromosomes are arranged in pairs, ordered by size and banding patterns, to create a karotyyppi.

Analyzing a karotyyppi is crucial for diagnosing various genetic disorders. Abnormalities in chromosome number, such as having an extra chromosome (trisomy) or missing a chromosome (monosomy), can lead to conditions like Down syndrome (trisomy 21), Turner syndrome (monosomy X), or Klinefelter syndrome (XXY). Structural rearrangements, such as deletions, duplications, translocations, or inversions, can also cause health problems. Karotyyppi analysis is a valuable tool in prenatal diagnosis, fertility investigations, and the identification of certain types of cancer.