Karyotípiánál

Karyotípiánál, also known as karyotyping, is a laboratory technique used to identify and analyze chromosomes. It involves examining the number and appearance of chromosomes in the nucleus of a cell. This process is crucial for understanding genetic abnormalities and is often used in prenatal diagnosis, cancer research, and the study of genetic disorders.

The process of karyotyping typically begins with obtaining a biological sample, such as blood, amniotic fluid, or tissue. These cells are then cultured in a laboratory to encourage cell division. During a specific phase of cell division called metaphase, chromosomes are most condensed and visible. The cells are treated to stop division at this stage, and then stained to highlight the chromosomes. High-resolution microscopy is used to visualize the chromosomes, which are then photographed and arranged in a standardized order, creating a karyotype. This arrangement pairs homologous chromosomes based on size, banding patterns, and centromere position.

The resulting karyotype displays the complete set of chromosomes for an individual, ordered from largest to smallest. Deviations from the normal human karyotype, which consists of 23 pairs of chromosomes (22 pairs of autosomes and one pair of sex chromosomes), can indicate various genetic conditions. For instance, aneuploidy, a condition where there is an abnormal number of chromosomes, can be detected. Examples include Down syndrome (trisomy 21), where an extra copy of chromosome 21 is present, or Turner syndrome (monosomy X), where females have only one X chromosome. Karyotyping is a powerful diagnostic tool that provides a comprehensive overview of an individual's chromosomal makeup.