karyotüüpi

Karyotüüpi refers to the complete set of chromosomes in a cell or organism, typically arranged in homologous pairs and ordered by size and shape. It is essentially a visual representation or catalog of an individual's chromosomes. Karyotyping is a laboratory technique used to examine the number and structure of chromosomes. This process involves obtaining cells, typically from blood, amniotic fluid, or bone marrow, and culturing them to induce cell division. During metaphase, when chromosomes are most condensed and visible, the cells are arrested. The chromosomes are then stained and photographed, and the images are arranged in a standardized format.

The resulting karyotype is crucial for diagnosing various genetic disorders, chromosomal abnormalities, and certain types of cancer. For instance, aneuploidies, such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13), are readily identifiable through karyotyping due to the presence of an extra chromosome. Structural abnormalities, like translocations, deletions, and duplications, can also be detected, which can lead to developmental problems or increased susceptibility to certain diseases. Karyotyping is a foundational tool in cytogenetics, providing essential information about an organism's genetic makeup and aiding in reproductive counseling and disease management.