22q11.2 deletion syndrome classification
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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.
Since symptoms of DiGeorge syndrome were variable and the underlying cause (deletions of 22q11.2) is responsible for other related/overlapping syndromes, using terms such as 'complete' and 'partial' DiGeorge syndrome is in reference to individual cases which had all the characteristic signs and symptoms (e.g., hypoparathyroidism, absent thymus, and heart disease) versus those with only some of them.[1]
References
- ↑ Akar NA, Adekile AD. Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction. Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre. 2007 ;16(4):318-320. DOI: 10.1159/000102157.