The Dalglish Family 22q Clinic

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

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:

• Our pamphlets

• Article about 22q for direct support professionals

• Further reading for medical professionals