mikródeleció

Mikrodeletion refers to a small-scale deletion of genetic material on a chromosome. These deletions are too small to be seen under a microscope, hence the prefix "mikro" (Greek for small). They are typically identified through molecular genetic testing methods such as chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH).

Mikrodeletions can occur spontaneously during the formation of sperm or egg cells or can be inherited from a parent. The consequences of a mikrodeletion depend entirely on the specific genes that are lost and their function. Some mikrodeletions may have no observable effect on an individual, while others can lead to a range of developmental, intellectual, or physical health issues.

Examples of conditions associated with mikrodeletions include DiGeorge syndrome (22q11.2 deletion syndrome), which can cause heart defects, immune deficiencies, and developmental delays, and Williams syndrome, characterized by cardiovascular problems, distinctive facial features, and intellectual disability. Genetic counseling is often recommended for individuals and families affected by mikrodeletions to understand the inheritance patterns and potential risks.