Mikrodeletsioonid

Mikrodeletsioonid, also known as microdeletions, are small segments of DNA that have been lost from a chromosome. They are typically less than 1 megabase in size and can occur spontaneously or as a result of genetic recombination events. Microdeletions can have significant impacts on an individual's health and development, as they can disrupt the function of genes located within the deleted region.

Microdeletions can be detected using various molecular techniques, such as fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH). These techniques allow for the identification of specific deletions and can be used for diagnostic purposes in genetic disorders associated with microdeletions.

The clinical significance of microdeletions varies depending on the specific genes involved and the size of the deletion. Some microdeletions are associated with well-characterized genetic disorders, such as Prader-Willi syndrome, Angelman syndrome, and DiGeorge syndrome. In these cases, the presence of a microdeletion can be used to confirm a diagnosis and guide management.

However, many microdeletions are of unknown significance and may not be associated with any recognizable phenotype. These deletions are often referred to as "benign" or "likely benign" in clinical reports. The interpretation of microdeletions can be complex, and genetic counselors and clinicians play a crucial role in providing accurate information and guidance to individuals and families affected by these genetic variants.