DiGeorgeszindróma

DiGeorgeszindróma, also known as 22q11.2 deletion syndrome, is a genetic disorder that results from a small missing piece of chromosome 22. This deletion can affect many different body systems, leading to a wide range of signs and symptoms that can vary greatly from person to person. The syndrome is characterized by a combination of physical, developmental, and medical issues.

Common features associated with DiGeorgeszindróma include heart defects, a characteristic facial appearance, a weakened immune system, and low levels of calcium in the blood. Individuals may also experience developmental delays, learning disabilities, and speech and feeding difficulties. The immune system problems can make people more susceptible to infections. Cleft palate is another common finding, which can affect feeding and speech.

The diagnosis of DiGeorgeszindróma is typically made based on clinical evaluation and confirmed through genetic testing, specifically fluorescence in situ hybridization (FISH) or chromosomal microarray analysis, which can detect the deletion on chromosome 22. There is no cure for the syndrome, but management focuses on addressing the specific symptoms and health problems that arise. This often involves a multidisciplinary team of specialists, including cardiologists, immunologists, speech therapists, and developmental pediatricians. Early intervention and ongoing medical care are crucial for improving outcomes and quality of life for individuals with DiGeorgeszindróma.