22q11.2 deletion syndrome classification: Difference between revisions

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==Overview==
==Overview==

Revision as of 18:34, 10 July 2020

22q11.2 deletion syndrome Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ayushi Jain, M.B.B.S[2]

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

  1. 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.

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