mosaikizma

Mosaikizma is a term that describes the phenomenon of the mosaicism observed in certain genetic conditions. It refers to the presence of two or more cell lines with different genotypes within a single individual. These cell lines can arise from a mutation occurring after fertilization, either in the developing embryo or in somatic cells later in life. The distribution and proportion of these different cell lines can vary significantly, impacting the severity and presentation of the associated genetic disorder.

Mosaicism can affect different parts of the body, including somatic cells (non-reproductive cells) or germline cells (sperm or egg cells). Somatic mosaicism typically affects only the individual harboring the mutation, while germline mosaicism can be passed on to offspring, leading to a higher recurrence risk of certain genetic conditions within a family. Diagnosis often involves genetic testing, which may require analyzing samples from multiple tissues to detect the presence of different cell populations. The management and prognosis of individuals with mosaikizma depend on the specific genetic condition, the extent of mosaicism, and the tissues involved. Research continues to explore the mechanisms underlying mosaicism and its implications for human health.