The 22q11.2 Society
www.22qsociety.org


Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

22q11.2DS Quick Facts

What does 22q11.2DS mean?

22q11.2DS stands for 22q11.2 deletion syndrome.

22Chromosome 22 (the smallest of the human chromosomes, in every cell of the body)
qThe long arm of the chromosome
11.2The position on the chromosome - like the GPS coordinates
DeletionA piece missing from one of the pair of chromosome 22
SyndromeA 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

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

The 22q11.2 Society Registered Charity No. 1165896