22q11 deletion syndrome: Genetics

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Learn about the genetic causes of 22q11 deletion syndrome, risk factors and confirming diagnosis.

Key points

  • 22q11DS is known by many names such as velo-cardio-facial syndrome and DiGeorge syndrome.
  • 22q11DS is a genetic disorder. It results from a small missing piece of genetic material (DNA) on chromosome 22. This is called a deletion.
  • The 22q11 deletion happens most of the time by chance. In some families, the 22q11 deletion can be inherited from a parent.
  • Genetic testing on a small blood sample can help to make a diagnosis.
  • A genetic counsellor can help you understand the genetics of 22q11DS and the chances for it to happen in a child.
Last updated: April 18th 2018