Karyotípusvizsgálat

Karyotípusvizsgálat, also known as karyotyping, is a cytogenetic technique used to examine an individual's chromosomes. This analysis involves obtaining a sample of cells, typically from blood, amniotic fluid, or bone marrow. The cells are then cultured and stimulated to divide, and at a specific stage of division, they are treated to halt the process and spread out the chromosomes. These chromosomes are stained and visualized under a microscope, allowing for their arrangement into a karyotype. A karyotype is a systematic arrangement of chromosomes in pairs, ordered by size, from largest to smallest, with sex chromosomes placed at the end. This process helps identify abnormalities in chromosome number or structure. These abnormalities can include aneuploidy, such as trisomy (an extra copy of a chromosome, like in Down syndrome) or monosomy (a missing chromosome), as well as structural rearrangements like translocations, deletions, or duplications. Karyotípusvizsgálat is a valuable diagnostic tool for detecting genetic disorders, assessing fertility issues, and prenatal screening. It provides a comprehensive overview of an individual's chromosomal makeup, aiding in diagnosis, genetic counseling, and understanding the genetic basis of certain diseases.