mikrodeleciók

Mikrodeleciók, or microdeletions, are small chromosomal abnormalities where a tiny segment of a chromosome is missing. These deletions are often too small to be seen under a standard microscope and require specialized genetic testing, such as chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH), for detection. Microdeletions can occur spontaneously during the formation of reproductive cells or be inherited from a parent.

The consequences of a microdeletion depend on the specific genes located within the deleted region. These deletions can lead to a variety of genetic disorders, often characterized by developmental delays, intellectual disability, distinctive facial features, and other physical abnormalities. Some well-known microdeletion syndromes include DiGeorge syndrome (22q11.2 deletion syndrome), Williams syndrome, and Prader-Willi syndrome and Angelman syndrome (both associated with deletions on chromosome 15).

Diagnosis of microdeletions is typically made through genetic testing, often prompted by clinical suspicion based on a person's physical characteristics or developmental milestones. Genetic counseling is an important component of managing microdeletions, providing information about the specific syndrome, inheritance patterns, and potential management strategies. While the missing genetic material cannot be replaced, early diagnosis and intervention can help individuals with microdeletions reach their full potential. Research is ongoing to better understand the genetic basis and develop potential therapeutic approaches for these conditions.