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).

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

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

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

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

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...)

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

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

Source: www.22qsociety.org/knowledge/22q11.2ds_quick_facts