22q11 DiGeorge Syndrome, also known as 22q11.2 deletion syndrome or velocardiofacial syndrome, is a genetic disorder caused by a small missing piece of chromosome 22. It is estimated to affect approximately 1 in 2,000 to 4,000 live births, making it one of the most common genetic disorders.
The prevalence of 22q11 DiGeorge Syndrome varies among different populations and ethnicities. It affects both males and females equally. The syndrome can present with a wide range of symptoms and severity, including heart defects, immune system problems, cleft palate, developmental delays, learning difficulties, and psychiatric disorders.
While the exact cause of the missing chromosome piece is unknown, it typically occurs spontaneously during early fetal development. However, in some cases, it can be inherited from a parent who also carries the deletion.
Early diagnosis and intervention are crucial for individuals with 22q11 DiGeorge Syndrome to receive appropriate medical care and support. Genetic testing can confirm the diagnosis, allowing for early intervention and management of associated health issues.
It is important to consult with a healthcare professional or genetic counselor for accurate information and guidance regarding 22q11 DiGeorge Syndrome.