Kromosomivianalyysi

Kromosomivianalyysi, known in English as chromosome analysis or karyotyping, is a laboratory technique used to examine an individual's chromosomes. Chromosomes are thread-like structures found in the nucleus of cells that contain genetic information in the form of DNA. This analysis helps identify abnormalities in chromosome number or structure, which can be associated with various genetic disorders and diseases.

The process typically involves obtaining a sample of cells, such as blood or tissue. These cells are then cultured to encourage cell division. During mitosis, chromosomes become condensed and visible under a microscope. The chromosomes are stained and photographed, and then arranged in order of size and banding pattern, creating a karyotype. This visual representation allows for the detection of aneuploidies (an abnormal number of chromosomes), such as Down syndrome (trisomy 21), or structural rearrangements like translocations, deletions, and duplications.

Kromosomivianalyysi is a crucial diagnostic tool in medical genetics. It is used to investigate infertility, recurrent miscarriages, congenital abnormalities, and developmental delays. It can also be employed in prenatal diagnosis and in the study of certain types of cancer, where chromosomal abnormalities are common. The results of a kromosomivianalyysi can help confirm a diagnosis, guide treatment decisions, and provide genetic counseling to affected individuals and families.