Kromoszómatranszlokációk

Kromoszómatranszlokációk refers to a type of chromosomal abnormality where a segment of one chromosome breaks off and attaches to another chromosome. This can occur between two different chromosomes (reciprocal translocation) or when a segment of a chromosome breaks off and attaches to a non-homologous chromosome in a different position (Robertsonian translocation). These rearrangements can be balanced, meaning all genetic material is present but rearranged, or unbalanced, leading to a loss or gain of genetic material. Balanced translocations are often asymptomatic in carriers, as they possess the normal amount of genetic information. However, they can lead to an increased risk of producing gametes with unbalanced chromosomal content, resulting in infertility, miscarriages, or offspring with genetic disorders. Unbalanced translocations, on the other hand, directly result in a net gain or loss of genetic material, which can cause developmental abnormalities and syndromes. The detection of chromosomal translocations is typically performed through cytogenetic analysis, such as karyotyping or fluorescence in situ hybridization (FISH). Genetic counseling is important for individuals or families where translocations are identified to understand the implications and potential risks.