Mikrodeletálódások

Mikrodeletálódások refer to very small deletions of genetic material, typically on the order of thousands to millions of base pairs. These deletions are too small to be detected by standard chromosome analysis techniques like karyotyping, hence the term "micro." They are a type of structural variation in the genome, meaning they involve changes in the DNA sequence. Mikrodeletálódások can arise spontaneously during germ cell formation or be inherited from a parent. Their clinical significance lies in their ability to remove one or more genes, which can lead to a range of genetic disorders.

The specific effects of a mikrodeletálódás depend on the size and location of the deleted region. If the deletion encompasses critical genes, it can disrupt normal development or cellular function. Some mikrodeletálódások are associated with well-defined genetic syndromes, such as DiGeorge syndrome (22q11.2 deletion) or Williams syndrome (7q11.23 deletion). These syndromes can present with a variety of symptoms, including developmental delays, intellectual disability, distinctive facial features, and congenital heart defects.

Diagnosing mikrodeletálódások often requires specialized molecular genetic techniques, such as chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH). CMA is a powerful tool that can detect deletions and duplications across the entire genome at a high resolution. Genetic counseling is an important part of managing individuals with mikrodeletálódások, as it can help families understand the inheritance patterns, potential health implications, and available management strategies. Research continues to identify new mikrodeletálódások and their associated phenotypes, improving our understanding of genome structure and its impact on human health.