Definition

22q11.2 deletion syndrome is a disease seen at birth that affects many parts of the body. It is rare.

It is linked to groups of syndromes. The most common types are DiGeorge syndrome and velocardiofacial syndrome

Causes

22q11.2 deletion syndrome is caused by missing genes in chromosome 22q11.2.

Risk Factors

The risk of this problem is higher in babies who have other family members who have it.

Symptoms

Problems differ among children. The missing genes can result in problems in almost any part of the body. A child may have:

  • Bluish skin due to problems with blood flow through the heart
  • Frequent infections
  • Abnormalities in body structures, such as facial features and the mouth
  • Learning problems
  • Slowed growth
  • Swallowing and feeding problems
  • Problems hearing
  • Behavioral and mental health problems
  • Arthritis and other autoimmune problems

Organs of the Immune System
immune system

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Diagnosis

The doctor may suspect 22q11.2 deletion syndrome at birth in a child that has certain features or health issues.

The doctor may ask about your child's symptoms and health history. A physical exam will be done.

A genetic test can be done to confirm the diagnosis. Other tests may be:

Treatment

There is no cure. The goal is to manage health problems. How it is done depends on the problems that a child has. Some choices are:

  • Increasing calcium in the blood with supplements
  • Early intervention therapies, such as speech, occupational, and physical therapy
  • Surgery to:

Prevention

There are no guidelines to prevent this health problem.

RESOURCES:

Immune Deficiency Foundation
https://www.primaryimmune.org

National Center for Biotechnology Information
https://www.ncbi.nlm.nih.gov

CANADIAN RESOURCES:

Canadian Association of Genetic Counsellors
https://www.cagc-accg.ca

Health Canada
https://www.canada.ca

REFERENCES:

22q11.2 deletion syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/22q11-2-deletion-syndrome. Accessed November 2, 2020.

22q11.2 deletion syndrome. Stanford Children's Health website. Available at: http://www.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-90-P01682. Accessed November 2, 2020.

McDonald-McGinn DM, Sullivan KE, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.

What is 22q11.2 deletion syndrome? Nationwide Children's website. Available at: http://www.nationwidechildrens.org/22q-signs-and-symptoms. Accessed November 2, 2020.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD  Last Updated: 11/2/2020