Karüotüüps

Karüotüüps, often transliterated as karyotype, refers to the characteristic set of chromosomes found in the cells of a particular organism or species. This set includes the number of chromosomes, their size, shape, and banding patterns. Humans, for instance, typically have 23 pairs of chromosomes, totaling 46. These are arranged into 22 pairs of autosomes, which are similar in males and females, and one pair of sex chromosomes (XX for females and XY for males).

The study of karüotüüps, known as karüotyping, is a crucial diagnostic tool in genetics and medicine. It allows for the identification of chromosomal abnormalities, such as aneuploidy (an abnormal number of chromosomes) and structural rearrangements like deletions, duplications, translocations, and inversions. These abnormalities can lead to various genetic disorders, developmental issues, and even certain types of cancer.

Karüotyping is performed by culturing cells, arresting them during cell division, staining the chromosomes, and then photographing and arranging them in a standardized format. The resulting karyotype is often presented as a diagram or an image where chromosomes are ordered by size and banding pattern. This visual representation enables geneticists to detect and analyze chromosomal changes, providing valuable information for diagnosis, prognosis, and genetic counseling.