Chromosomal aberrations are abnormalities in the structure or number of chromosomes that can cause serious birth defects. They can be diagnosed with a karyotype and are caused by problems during cell division or exposure to mutagens. Aberrations can be numerical or structural and can be passed on to offspring. Some can be identified during pregnancy and may lead to fetal death or miscarriage. Treatment involves supportive care as they cannot be cured.
A chromosomal aberration is an abnormality in the structure or number of chromosomes in an organism. Depending on the nature of the aberration, it can lead to serious birth defects, potentially including defects incompatible with life. Chromosomal aberrations can be diagnosed with the use of a karyotype, a visualization of an organism’s complete set of chromosomes, in which functional changes in the chromosomes will be easily visible. Treatment for people with chromosomal aberrations involves providing supportive care, as conditions caused by problems with the chromosomes cannot be cured.
The cause of a chromosomal aberration is usually a problem during cell division, either when cells divide to form gametes used in reproduction or when cells are in the process of dividing in the embryonic state. Exposure to radioactive substances and chemicals known to cause mutations can cause abnormalities in the gametes that will be passed on to the embryos if these gametes are used in fertilization. If errors occur during embryonic cell division, the resulting organism will exhibit genetic mosaicism, where some cells have a healthy set of chromosomes and others exhibit a chromosomal aberration.
Numerically, it is possible for a person to have three sets of chromosomes instead of two in one or more cases, making for an odd number of total chromosomes. Conversely, a single chromosome instead of a pair can appear in one or more locations. The nature of the impairments experienced as a result of this type of chromosomal aberration varies; a well-known example of a numerical chromosomal aberration is Down syndrome, in which people have an extra twenty-first chromosome.
Structurally, chromosomal aberrations can include deletions, insertions, loops, inversions, translocations, and duplications. These can lead to a variety of birth defects, and in some cases, a person may not have any noticeable symptoms because the aberration is minor. All of these aberrations can potentially be passed on to offspring, depending on what happens during cell division. In some cases, chromosomal aberrations actually make people infertile.
Some chromosomal aberrations can be identified during pregnancy. An embryo may not develop as expected, leading to a diagnosis, or prenatal testing may provide insight into genetic conditions. In some cases, these conditions lead to fetal death and a woman miscarries or experiences stillbirth. People who experience a pregnancy loss due to chromosomal aberrations may wish to consider genetic testing to learn more about their risk of problems with future pregnancies.
Protect your devices with Threat Protection by NordVPN
