22q11.2 deletion syndrome other diagnostic studies: Difference between revisions
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Latest revision as of 15:28, 20 June 2016
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22q11.2 deletion syndrome Microchapters |
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Differentiating 22q11.2 deletion syndrome from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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22q11.2 deletion syndrome other diagnostic studies On the Web |
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American Roentgen Ray Society Images of 22q11.2 deletion syndrome other diagnostic studies |
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22q11.2 deletion syndrome other diagnostic studies in the news |
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Risk calculators and risk factors for 22q11.2 deletion syndrome other diagnostic studies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Other Diagnostic Studies
The 22q11.2 deletion syndrome is diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization (FISH) using DNA probes from the DiGeorge chromosomal region (DGCR). Such genetic testing is widely available for the clinical and prenatal testing of the 22q11.2 deletion syndrome. Fewer than 5% of individuals with clinical symptoms of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and negative FISH testing. They may have variant deletions of DiGeorge syndrome that may be detectable on a research basis only.