Mikrodeletió

Mikrodeletió, also known as microdeletion, refers to the loss of a small segment of DNA from a chromosome. These deletions can range in size from a few base pairs to several thousand base pairs. Microdeletions can occur spontaneously or as a result of genetic mutations, and they can have significant impacts on an individual's health and development. They are often detected through genetic testing, such as array comparative genomic hybridization (aCGH) or next-generation sequencing (NGS).

Microdeletions can lead to a variety of genetic disorders, depending on the specific genes affected. Some well-known examples include:

- 22q11.2 deletion syndrome, which affects the chromosome 22 and can cause conditions such as DiGeorge syndrome and velocardiofacial syndrome.

- Williams-Beuren syndrome, caused by a deletion on chromosome 7, which results in distinctive facial features, intellectual disability, and cardiovascular problems.

- Prader-Willi syndrome, caused by a deletion on chromosome 15, which leads to obesity, intellectual disability, and behavioral issues.

The diagnosis and management of microdeletions often involve a multidisciplinary approach, including genetic counseling, medical management, and, in some cases, surgical interventions. Early detection and intervention can help mitigate the effects of these genetic conditions, improving the quality of life for affected individuals.