Familial 22q11.2 deletion: an infant with interrupted aortic arch and DiGeorge syndrome delivered from by a mother with tetralogy of Fallot.
When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease.
Ito
Tadahiko
T
Okubo
Tadashi
T
Sato
Hiroshi
H
D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities*; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics*