Kromosomamuutokset

Kromosomamuutokset, often referred to as chromosomal abnormalities or aberrations, are changes in the structure or number of chromosomes. These changes can occur spontaneously during cell division or be influenced by environmental factors. Chromosomes are thread-like structures found in the nucleus of cells, carrying genetic information in the form of DNA. They are typically organized into pairs, with humans having 23 pairs.

Changes in chromosome number, known as aneuploidy, can involve an extra chromosome (trisomy) or a missing chromosome (monosomy). A well-known example of trisomy is Down syndrome, caused by an extra copy of chromosome 21. Changes in chromosome structure can include deletions (loss of a segment), duplications (repeating of a segment), translocations (exchange of segments between non-homologous chromosomes), and inversions (reversal of a segment within a chromosome).

These alterations can have significant consequences for an individual's health and development. Some chromosomal abnormalities are harmless, while others can lead to various genetic disorders, developmental delays, intellectual disabilities, and an increased risk of certain diseases. The severity of the effects often depends on the specific chromosome involved and the nature of the change. Diagnosis of chromosomal abnormalities is typically made through genetic testing, such as karyotyping or chromosomal microarray analysis. While some chromosomal abnormalities cannot be prevented, genetic counseling can provide information and support for individuals and families affected by these conditions.