kromozomal

Kromozomal is a term used to describe anything related to chromosomes, the cellular structures that organize and carry genetic material. In humans, chromosomes are long DNA molecules packaged with proteins; somatic cells contain 46 chromosomes arranged in 23 pairs, including 22 autosomes and 1 pair of sex chromosomes. The karyotype is the number and appearance of chromosomes and is used to diagnose chromosomal conditions.

Chromosomal abnormalities can be numerical (aneuploidy, such as trisomy 21 or monosomy X) or structural (deletions, duplications, inversions, translocations, rings). Some abnormalities are present in all cells, while others are mosaic, limited to a subset of cells. Common conditions include Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13), as well as Turner syndrome (45,X) and Klinefelter syndrome (47,XXY). Variations affecting sex chromosomes, such as Triple X and XYY, are also described.

Detection and analysis of kromozomal changes rely on several methods. Conventional karyotyping reveals overall chromosome number and structure; fluorescence in situ hybridization (FISH) targets specific chromosomes or regions; array comparative genomic hybridization (array CGH) detects submicroscopic deletions and duplications; newer sequencing-based approaches can identify a broad range of chromosomal variants. Prenatal testing, including amniocentesis or chorionic villus sampling, can detect chromosomal abnormalities before birth and inform clinical decisions.

The study of kromozomal phenomena is central to cytogenetics and medical genetics, supporting diagnosis, prognosis, and counseling. It contributes to research in development, evolution, oncology, and forensic science by characterizing how chromosomal changes affect biology and health.