Kromoszómavizsgálatokat

Kromoszómavizsgálatokat, or chromosomal analysis, refers to a laboratory test that examines a person's chromosomes. Chromosomes are structures found within the nucleus of a cell that contain an individual's genetic information in the form of DNA. Each person typically has 23 pairs of chromosomes, with one set inherited from each parent. These chromosomes carry genes, which are the basic units of heredity.

Chromosomal analysis is performed for a variety of reasons. It can be used to diagnose genetic disorders that arise from an abnormal number or structure of chromosomes. Examples include Down syndrome (trisomy 21), where there are three copies of chromosome 21, or Turner syndrome (monosomy X), where females have only one X chromosome. The test can also identify chromosomal abnormalities that may increase the risk of certain cancers or recurrent miscarriages.

The process typically involves obtaining a sample of cells, such as blood, saliva, or amniotic fluid. These cells are then cultured in a laboratory to allow them to divide. Once sufficient cells are present, they are prepared and stained to make the chromosomes visible under a microscope. A trained cytogeneticist examines the chromosomes for any deviations in their number, shape, or size. This visual inspection, known as karyotyping, allows for the identification of numerical abnormalities (aneuploidy) and structural rearrangements like deletions, duplications, translocations, and inversions. More advanced techniques like spectral karyotyping (SKY) can further enhance the resolution and accuracy of the analysis. The results provide valuable information for diagnosis, prognosis, and genetic counseling.