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What is chromosomal aberration?

Chromosomal aberrations refer to any alterations in the normal structure or number of chromosomes, which can often lead to genetic disorders.

These aberrations are significant in the field of biology as they contribute to genetic variation and can cause a range of genetic disorders. Chromosomes, which carry genetic information in the form of genes, can undergo several types of changes, including deletions, duplications, inversions, and translocations.

Deletions occur when a segment of a chromosome is lost during DNA replication. This loss can result in the absence of essential genes, potentially leading to genetic disorders. Conversely, duplications arise when a segment of a chromosome is copied, resulting in additional genetic material. This surplus can disrupt normal gene function and may also result in genetic disorders.

Inversions represent another form of chromosomal aberration, in which a segment of a chromosome is reversed end-to-end. This inversion can interfere with the normal functioning of genes, leading to various genetic disorders. Translocations, on the other hand, happen when a segment of one chromosome is relocated to another chromosome. The effects of translocations on health depend on the specific genes involved.

Chromosomal aberrations can also involve changes in the overall number of chromosomes. For instance, humans typically have 4646 chromosomes. However, some individuals may possess more or fewer chromosomes due to errors that occur during cell division. A well-known example of this is Down syndrome, which is caused by the presence of an extra copy of chromosome 2121.

The causes of chromosomal aberrations are diverse and can include exposure to radiation, chemicals, viruses, and certain medications. They may also occur spontaneously during the process of cell division. Despite their potential to cause genetic disorders, chromosomal aberrations play a vital role in evolution by introducing new genetic variation into populations.

Answered by: Prof. Thomas Green
IB Biology Tutor
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