Aberration Chromosomal

Chromosomal aberrations are changes in the structure of chromosomes caused by their breakage and redistribution of genetic material, usually leading to loss or partial loss of genetic information.

Chromosomal changes can be caused by various factors such as radiation, chemicals, viruses and other mutagens. Some of the most common types of chromosomal aberrations include deletions, inversions, translocations, duplications, and trisomies.

Deletions are the loss of part of a chromosome. Inversions are changes in the order of genes on a chromosome, resulting in a rotation of a portion of the chromosome by 180 degrees. Translocation is the transfer of part of a chromosome from one position to another. Duplications are the doubling of a section of a chromosome. Trisomy is the presence of three copies of a chromosome instead of two.

Chromosomal abnormalities can be detected during prenatal screening, as well as during genetic testing in families with hereditary diseases. They can lead to various diseases, including Down syndrome, Turner syndrome, Klinefelter syndrome and others.

To prevent chromosomal abnormalities, it is recommended to avoid exposure to mutagenic factors and undergo regular medical examinations.

Chromosomal aberrations are changes in the structure of chromosomes caused by their rupture, redistribution of genetic material (loss, partial duplications) or the formation of duplications. These chromosome abnormalities were first discovered in cases of atypical chromosome separation in newborns and were designated as aberrations [1] [2].