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Diseases

Genetic and Rare Diseases Information Center (GARD)

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22q11.2 deletion syndrome


Other Names for this Disease

  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
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Inheritance

Newline Maker

Is 22q11.2 deletion syndrome inherited?

Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion.[1]

All people with the deletion, whether they inherited it or not, can pass the deletion to their children. The inheritance pattern is autosomal dominant because having a deletion in only one copy of chromosome 22 in each cell is enough to cause signs and symptoms. Each child of a person with the deletion has a 50% (1 in 2) chance to inherit the deletion.
Last updated: 1/30/2014

References
  1. 22q11.2 deletion syndrome. Genetics Home Reference. July, 2013; http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome. Accessed 1/29/2014.


Other Names for this Disease
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.