karüotüüpi

Karüotüüpi refers to the complete set of chromosomes in a cell or organism. It is an individual's unique chromosome complement, which is organized by size, shape, and banding pattern. Humans typically have 46 chromosomes arranged in 23 pairs: 22 pairs of autosomes and one pair of sex chromosomes (XX for females and XY for males).

Analyzing an individual's karüotüüpi, known as karüotüüping, is a genetic test that can reveal abnormalities in chromosome number or structure. These abnormalities can include aneuploidy, where there is an abnormal number of chromosomes (e.g., Down syndrome, characterized by an extra copy of chromosome 21), or structural rearrangements such as translocations, deletions, or duplications.

Karüotüüping is performed on cells, often white blood cells, that are cultured and then treated to stop cell division at a specific stage. The chromosomes are then stained to reveal characteristic banding patterns, which are used to identify and arrange them. The resulting image, called a karyogram or idiogram, allows geneticists to visually inspect the chromosomes for any deviations from the normal pattern.

This diagnostic technique is valuable in various medical contexts. It is used to investigate reproductive issues like infertility and recurrent miscarriages, to diagnose congenital abnormalities and developmental delays in children, and to identify genetic conditions in individuals suspected of having chromosomal disorders. Understanding an individual's karüotüüpi is crucial for diagnosis, genetic counseling, and sometimes, treatment planning.