22q11.2 deletion syndrome classification: Difference between revisions
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==Overview== | ==Overview== | ||
Based on the subtype, DGS may be classified as either partial or complete. | |||
Based on the | |||
==Classification== | ==Classification== | ||
There is no established system for the classification of | There is no established system for the classification of DGS. | ||
However, based on the severity, it may be classified as partial DGS and complete DGS. | |||
Symptoms of what was formerly known as DiGeorge syndrome were variable and the underlying cause (deletions of 22q11.2) is also responsible for related/overlapping syndromes. Terms such as 'complete' and 'partial' DiGeorge syndrome have been used in reference to individual cases which had all the characteristic signs and symptoms (e.g., hypoparathyroidism, absent thymus, and heart disease) verses those with only some of them.<ref>Hernández-Nieto L, Yamazaki-Nakashimada MA, Lieberman-Hernández E, Espinosa-Padilla SE. Autoimmune thrombocytopenic purpura in partial DiGeorge syndrome: case presentation. ''J Pediatr Hematol Oncol''. August 2011; 33(6):465-466.</ref> | |||
==References== | ==References== | ||
Revision as of 18:34, 10 July 2020
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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 classification On the Web |
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American Roentgen Ray Society Images of 22q11.2 deletion syndrome classification |
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Risk calculators and risk factors for 22q11.2 deletion syndrome classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
Based on the subtype, DGS may be classified as either partial or complete.
Classification
There is no established system for the classification of DGS.
However, based on the severity, it may be classified as partial DGS and complete DGS.
Symptoms of what was formerly known as DiGeorge syndrome were variable and the underlying cause (deletions of 22q11.2) is also responsible for related/overlapping syndromes. Terms such as 'complete' and 'partial' DiGeorge syndrome have been used in reference to individual cases which had all the characteristic signs and symptoms (e.g., hypoparathyroidism, absent thymus, and heart disease) verses those with only some of them.[1]
References
- ↑ Hernández-Nieto L, Yamazaki-Nakashimada MA, Lieberman-Hernández E, Espinosa-Padilla SE. Autoimmune thrombocytopenic purpura in partial DiGeorge syndrome: case presentation. J Pediatr Hematol Oncol. August 2011; 33(6):465-466.