Mikródeleciószindróma

Mikródeleciószindróma, also known as microdeletion syndrome, refers to a group of genetic disorders that occur when a small segment of a chromosome is missing. These deletions can vary in size and location, leading to a wide range of physical and developmental characteristics. The specific symptoms depend on which genes are absent and their function.

Common features associated with microdeletion syndromes can include intellectual disability, developmental delays, distinctive facial features, congenital heart defects, and problems with growth. The severity of these symptoms can also differ significantly between individuals, even those with the same microdeletion. Diagnosis typically involves genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH).

While there is no cure for microdeletion syndromes, management focuses on addressing the specific symptoms and providing supportive care. This may involve therapies like physical, occupational, and speech therapy, as well as medical interventions for any associated health conditions. Early diagnosis and intervention are crucial for optimizing developmental outcomes for affected individuals. Research into the specific genes involved in various microdeletion syndromes continues to advance our understanding of these complex conditions and potential therapeutic approaches.