transzlokáció

Transzlokáció is a term used in genetics to describe a type of chromosomal abnormality where a segment of one chromosome breaks off and attaches to another chromosome. This can occur between non-homologous chromosomes, meaning chromosomes that do not pair up during meiosis. Translocations can be balanced or unbalanced. A balanced translocation means that all the genetic material is present, but its arrangement is altered. While individuals with balanced translocations are often phenotypically normal, they may have an increased risk of producing offspring with genetic abnormalities. An unbalanced translocation results in a loss or gain of genetic material, which can lead to developmental issues or health problems for the individual.

There are two main types of translocations: reciprocal and Robertsonian. A reciprocal translocation involves the exchange of segments between two non-homologous chromosomes. For example, a piece of chromosome 1 might break off and attach to chromosome 5, while a piece of chromosome 5 breaks off and attaches to chromosome 1. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with the centromere very close to one end) fuse at their centromeres, with the loss of their short arms. This commonly involves chromosomes 13, 14, 15, 21, and 22. Translocations can arise spontaneously during the formation of egg or sperm cells or can be inherited from a parent. Genetic testing, such as karyotyping or chromosomal microarray, is used to detect translocations.