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22q11.2 c-deletion

22q11.2 constitutional deletion

 

deletion of 22q11

Synopsis (exemples)

-  deletion 22q11.2 syndrome (D22S)
-  Di George syndrome
-  Tetralogy of Fallot
-  developmental delay
-  neural tube defects (NTDs)

-  velo-cardio-facial syndrome
-  DiGeorge sequence
-  congenital heart defect
-  minor facial anomalies
-  thymic hypoplasia
-  cleft lip and/or cleft palate
-  hypocalcemia
-  conotruncal heart defect



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