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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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Symptoms

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What are the signs and symptoms of 22q11.2 deletion syndrome?

Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include:[1]
Last updated: 1/29/2014

References
  1. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. GeneReviews. 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_22q11deletion. Accessed 6/25/2008.


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.