Kromoszómaátprések

Kromoszómaátprések, a Hungarian term, translates to chromosome translocations in English. A chromosome translocation is a genetic rearrangement where a segment of one chromosome breaks off and attaches to another chromosome. This can happen in two main ways: a reciprocal translocation, where two non-homologous chromosomes exchange segments, or a Robertsonian translocation, where two acrocentric chromosomes fuse at their centromeres and lose their short arms.

These translocations can occur spontaneously, known as de novo mutations, or they can be inherited from a parent. While many translocations are balanced, meaning no genetic material is lost or gained, they can still have consequences. In some cases, the rearrangement can disrupt the normal function of genes located at the breakpoint.

Chromosomal translocations are associated with various health conditions. They are a common cause of certain types of cancer, such as chronic myeloid leukemia (CML), where a specific reciprocal translocation (the Philadelphia chromosome) leads to the formation of an abnormal fusion gene. Translocations can also contribute to developmental disorders and infertility. Genetic counseling and cytogenetic testing are often used to identify and assess the implications of chromosome translocations.