Neural tube defects and deletions of 22q11

Abstract excerpt

Recently we reported on three unrelated children with neural tube defects (NTDs) and deletion of 22q11. Two of these children have velo-cardio-facial syndrome and the third DiGeorge sequence. Thus, NTDs appear to be part of the clinical picture due to 22q11 deletion. To further explore this association and to clarify what findings should prompt testing for this deletion in individuals with NTDs, we have reviewed...

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