22q11.2DS Quick Facts
What does 22q11.2DS mean?
22q11.2DS stands for 22q11.2 deletion syndrome.22 | Chromosome 22 (the smallest of the human chromosomes, in every cell of the body) |
q | The long arm of the chromosome |
11.2 | The position on the chromosome - like the GPS coordinates |
Deletion | A piece missing from one of the pair of chromosome 22 |
Syndrome | A collection of features, formerly known by many names, including DiGeorge Syndrome and Velo-cardio-facial syndrome (VCFS) |
22q11.2DS was formerly known by many names, including DiGeorge Syndrome or Velo-cardio-facial syndrome (VCFS).
What is 22q11.2DS?
- A genetic condition people are born with, but one that is usually not inherited
- A genetic condition that has many features. Some of these are obvious at birth, and some develop later in life
- The most common microdeletion syndrome – a type of genetic condition we have known about only for about 20 years
How common is 22q11.2DS?
- More common than cystic fibrosis or Huntington's disease
- About one in every 2,000 babies are born with 22q11.2DS – boys and girls, from every community
- The most common cause of 'blue babies' – one in every 8 babies with tetralogy of Fallot has 22q11.2DS
- The second most common genetic cause of intellectual disabilities
How serious is it?
- It can cause stillbirths, or babies to die; adults may have early mortality in middle age
- It is often disabling
- It can cause serious physical and mental health problems
How does it affect families?
- Families often search for many years for an answer – the 'diagnostic odyssey' – for multiple health problems
- Surgeries for babies and children, speech and learning difficulties in school, physical and mental health problems
- Multiple appointments, often lack of coordinated care, and uncertainties about work, relationships, long term outcome
Why have we never heard of it?
- The piece missing on chromosome 22 is too small to be seen with the standard chromosome test in use for 60 years
- Testing only became available in the mid-1990s and not all doctors are familiar with these newer genetic tests
- The features and their severity vary from person to person so doctors may not recognize it
- The many previous names for 22q11.2DS can cause confusion (DiGeorge, velocardiofacial, conotruncal anomaly face...)
How important is it?
- It is a major cause of heart defects and other birth defects
- It is the only testable cause of schizophrenia
- It can cause seizures, curvatures of the spine, thyroid problems, low calcium, speech and swallowing problems, early onset Parkinson's disease, hearing problems, anxiety disorders, and other treatable conditions
- 22q11.2DS may need 'the whole hospital' - potentially every kind of medical specialist and health care clinician
- It can affect people from any ethnic or social background
How can we treat it?
- Most of the individual features of 22q11.2DS are treatable – and for some, such as low calcium, prevention is possible
- Once a person is diagnosed with 22q11.2DS, doctors can monitor for and recognize problems early – and improve outcomes
Content provided by Dr. Anne Bassett