22q11.2 deletion syndrome


How do I find a center specializing in 22q11.2 deletion syndrome?

The International 22q11.2 Foundation, Inc. (http://www.22q.org/resources-for-22q/clinics/) can help you find a center in the United States or elsewhere. A genetic counselor may also be able to recommend a clinic in your area. Genetic counselors can be found on the National Society of Genetic Counselors website.

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What specialist doctors should I see with 22q11.2 deletion syndrome?

What specialist doctors should I see with 22q11.2 deletion syndrome?

What specialists a person sees will depend by how they are affected by 22q11.2 deletion syndrome and their specific symptoms. Such specialists may include audiologists, cardiologists, endocrinologists, immunologists, ENT specialists, neurologists, psychiatrists, gastroenterologists and others. Early intervention may also be recommended and can be requested by a pediatrician or other health care provider or directly by parents.

  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1523/
  • International 22q11.2 Foundation http://www.22q.org

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