22q11.2DS ("22q") Quick Facts
Here is the infographic that our team shared with everyone at the University Health Network from November 20 to 27, 2021. Please feel free click to download it in jpg or pdf format. Together, let’s raise awareness for 22q!
What is 22q11.2 Deletion Syndrome (22q11.2DS)?
22q11.2DS or 22q 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|
An individual with 22q11.2 Deletion Syndrome (22q11.2DS) is missing a piece of chromosome 22.
- 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: