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22q11.2 deletion syndrome
Other Names for this Disease
- Autosomal dominant Opitz G/BBB syndrome
- Cayler cardiofacial syndrome
- Chromosome 22q11.2 deletion syndrome
- Conotruncal anomaly face syndrome
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 It is characterized by a variety of symptoms, including cleft palate, heart defects, unique facial characteristics, learning and feeding problems, immune system disorders, hypoparathyroidism, and scoliosis. Symptoms can vary greatly from patient to patient. It is caused by a missing piece (deletion) of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. Click here to view a diagram of chromosome 22.22q11.2 deletion syndrome is a spectrum disorder encompassing what was formerly called DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and cases of Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.
Last updated: 7/2/2012
- 22q11.2 deletion sydrnome. Genetic Home Reference. 2007; http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome . Accessed 6/25/2008.
- Velocardiofacial syndrome. National Institute on Deafness and other Communication Disorders (NIDCD). 2004; http://www.nidcd.nih.gov/health/voice/velocario.asp. Accessed 6/25/2008.
- Genetics Home Reference (GHR) contains information on 22q11.2 deletion syndrome. This website is maintained by the National Library of Medicine.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss 22q11.2 deletion syndrome. Click on the link to go to OMIM and review these resources.
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