mikrodeletálódás

Mikrodeletálódás refers to a genetic phenomenon where a small segment of a chromosome is lost. This deletion is typically too small to be observed under a standard microscope, hence the prefix "mikro". These microdeletions can encompass a few genes or even just a portion of a single gene, and their impact can vary widely depending on the specific genes involved and their function.

The consequences of mikrodeletálódás can range from no discernible effect to severe developmental disorders and intellectual disabilities. Some well-known syndromes are caused by specific microdeletions. For instance, DiGeorge syndrome (22q11.2 deletion syndrome) and Williams syndrome (7q11.23 microdeletion) are examples of conditions arising from the loss of critical genetic material. Diagnosis often requires specialized genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). The genetic basis for these deletions can be due to errors during meiosis (the process of forming sperm and egg cells) or other DNA replication errors. Research into mikrodeletálódás is ongoing to better understand the genotype-phenotype correlations and to develop improved diagnostic and therapeutic strategies.