karyotüüp

Karyotüüp refers to the complete set of chromosomes in a cell or organism, ordered by size, shape, and banding pattern. It is essentially a snapshot of an individual's genetic material at a specific point in time, usually during cell division when chromosomes are most condensed and visible. Scientists use karyotyping to examine the number and structure of chromosomes. This process involves obtaining a cell sample, stimulating cell division, arresting it at a stage where chromosomes are clearly defined, and then staining and photographing the chromosomes. These images are then arranged to form a karyotype.

Karyotyping is a valuable diagnostic tool used to identify chromosomal abnormalities. These abnormalities can include changes in chromosome number, such as trisomy (having an extra copy of a chromosome, like in Down syndrome) or monosomy (having only one copy of a chromosome), and structural rearrangements like deletions, duplications, translocations, or inversions. Identifying these changes can help in diagnosing genetic disorders, understanding their causes, and sometimes in predicting their severity or inheritance patterns. The analysis is typically performed by cytogeneticists who are trained to interpret these complex chromosomal arrangements.