22q11.2DS ("22q") Quick Facts

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22q infographic

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What is 22q11.2 Deletion Syndrome (22q11.2DS)?

22q11.2DS or 22q 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

22q11.2DS used to be called many names, including velo-cardio-facial syndrome and DiGeorge syndrome [See Same Name Campaign.

An individual with 22q11.2 Deletion Syndrome (22q11.2DS) is missing a piece of chromosome 22.


22q11.2 deletions…

  • Are found in about 1 in every 2148 newborns
  • Are often under-recognized and not tested for
  • Are usually new (instead of inherited) genetic changes, not found in either parent
  • Are found in a parent about 1 in every 10 people
  • Are not caused by anything the parents did or did not do before or during the pregnancy

22q11.2DS is a genetic condition that has many possible health issues. These can include:

  • Intellectual and developmental disabilities (ranging from very mild to severe)
  • Developmental delay
  • Learning difficulties
  • Problems with how the palate works, that can cause nasal sounding speech
  • Congenital heart defects (birth defects of the heart)
  • Multiple infections as a child
  • Treatable psychiatric illnesses (especially anxiety and schizophrenia)
  • Neurological conditions (epilepsy and early onset Parkinson disease)
  • Endocrinological conditions (hypothyroidism, hypocalcemia, type 2 diabetes)
  • Kidney disease
  • Thrombocytopenia (Low blood platelet count)
  • Curvature of the spine

    …plus many others

No one person has all the possible features. Everyone with 22q11.2DS is different, even within a family.

There are treatments available for nearly all of the features.

For more information, please see:

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