DiGeorge Syndrome

‘What’s 22q?' - some words we need to stop hearing - International 22q11.2 Foundation

DiGeorge Syndrome

image by: The 22q Family Foundation

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Because of the way our understanding of the 22q11.2 deletion evolved, several different names continue to be used for what we now know to be the same condition. These older terms include DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, Cayler cardiofacial syndrome, Shprintzen syndrome and more.

Genetically speaking, there is no detectable difference in the microdeletions found in people with VCFS versus those with DGS, CTAF, or the other related syndromes. Individuals with these diagnoses all have the same underlying condition: the 22q11.2 deletion syndrome.

Unfortunately, having a…

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Last Updated : Saturday, December 28, 2019