X-Nico

2 unusual facts about DiGeorge syndrome


DGCR2

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22.

Sally Quinn

In 2009, they appeared with Quinn Bradlee on the Charlie Rose show on PBS and spoke of Quinn being born with velo-cardio-facial syndrome, also known as 22q11.2 deletion and Shprintzen syndrome (named after Dr. Robert Shprintzen who first identified the disorder in 1978 and who also diagnosed Quinn Bradlee).



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