What is 22q11?

22q11.2 deletion syndrome is a genetic condition that some babies are born with. A genetic condition happens when there is a problem with a part of a child’s DNA. 22q11.2 deletion syndrome can affect many different systems in the body. The problems it causes can range in severity. We each have 23 pairs of chromosomes, with one of each pair coming from the mother and the other from the father. The chromosomes are numbered from 1 to 22 with the 23rd pair, called the sex chromosomes determining whether we are male or female. In 22q11 deletion syndrome a tiny part is missing from chromosome 22, the q11 indicates exactly where this is.

22q11.2 deletion syndrome is called 22qDS or 22q for short. Older names for the same genetic difference include DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome, and Caylor cardiofacial syndrome. 22q11.2DS is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcaemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioural differences.

What we do

At 22q11 Ireland, we aim to provide lifelong support for those impacted by 22q11
We welcome and encourage families living with 22q11 Deletion Syndrome with open arms and an empathetic ear, and by working to build a holistic care model that will help 22q11 patients and their loved ones throughout their lives.

What we do >