Medical Specialties

Diagnosing 22q11.2 Deletion Syndrome in Children


How is 22q11.2 deletion syndrome diagnosed?

In addition to a prenatal history, complete medical and family history, and a physical examination, diagnostic procedures for 22q11.2 deletion may include: 

  • Blood tests and tests to examine for immune system problems
  • X-ray. A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film 
  • Echocardiography. A procedure that evaluates the structure and function of the heart, by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves 
  • Full Chromosomal microarray analysis (CMA). CMA is a newer laboratory test used to detect chromosomal imbalance at a higher resolution than standard chromosome or FISH techniques.

In approximately 10 percent of families, the deletion has been inherited from one of the parents. Any individual who has this 22q11.2 deletion has a 50 percent chance, with each pregnancy, of passing it on to a child.           

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