22q11 deletion syndrome (22q11DS)

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22q11 deletion syndrome (22q11DS) is a genetic condition. Learn what causes it, how it's diagnosed and treated.

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 a specific part of 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.
  • People with 22q11DS may experience one or more of the associated symptoms. The most common symptoms seen are heart defects, low calcium levels, immune deficiency, speech and language impairments, and learning disabilities.
  • There is no cure for 22q11DS but your child’s symptoms can be treated and managed. With appropriate support, your child can lead a happy, productive life.
Last updated: April 18th 2018