Kariotípusvizsgálat

Kariotípusvizsgálat, also known as karyotyping, is a genetic test that examines an individual's chromosomes. Chromosomes are structures found within the nucleus of cells that carry genetic information in the form of genes. A karyotype displays the complete set of chromosomes for a person, organized by size, shape, and banding pattern. This arrangement allows for the identification of abnormalities in chromosome number or structure.

The process typically involves obtaining a blood sample, from which white blood cells are cultured. These cells are then treated with chemicals to halt cell division at a specific stage when chromosomes are most condensed and visible. The chromosomes are stained to reveal characteristic banding patterns, which are unique to each chromosome type. Photomicrographs of the chromosomes are then taken, and they are arranged in pairs according to their size and banding.

Kariotípusvizsgálat is used to diagnose a variety of genetic disorders. It can detect chromosomal abnormalities such as aneuploidies, which involve an extra or missing chromosome, like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). It can also identify structural rearrangements like translocations, deletions, and duplications, which can lead to developmental problems, infertility, or certain types of cancer. The test is often performed when there is a suspicion of a genetic disorder, a family history of chromosomal abnormalities, or to investigate recurrent miscarriages.