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22q11.2 Microdeletion

The cause of 22q deletion syndrome

 

A microdeletion is the absence of a small piece of chromosome and is named by the area of the chromosome that is absent. The Harmony test looks for 22q11.2 microdeletion, the most common genetic cause of intellectual disability and heart defects after Down syndrome.1 While it can be inherited from a parent, most babies with 22q11.2 microdeletion are the first in their family to be diagnosed.3 Some people with 22q11.2 microdeletion have very subtle features that are not noticed until after childhood, while others have birth defects that are seen during a prenatal ultrasound.4,5 22q11.2 microdeletion is the cause of genetic syndromes such as velocardiofacial syndrome and DiGeorge syndrome.

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For more detailed information about 22q11.2 microdeletion including pregnancy management, health care guidelines, advocacy and support for families:

  1. Rauch et al. Am J Med Genet A. 2006 Oct 1;140(19):2063-74.
  2. Schmid et al. Fetal Diagn Ther 2017; doi: 10.1159/000484317.
  3. McDonald-McGinn et al. Genet Med. 2001 Jan-Feb;3(1):23-9.
  4. McDonald-McGinn et al. Genet Couns. 1999;10(1):11-24.
  5. Bassett et al. J Pediatr. 2011 Aug;159(2):332-9.