Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: association with deletion 22q11.2.
We describe the first association of pulmonary atresia, intact ventricular septum, and absent central pulmonary arteries with deletion 22q11.2. The pulmonary blood flow was derived from major aortopulmonary collaterals. The role of the deletion in pulmonary arborization is discussed.
Li
C
C
Section of Genetics and Metabolism, Children's Hospital, Health Sciences Center, Winnipeg Regional Health Authority, 840 Sherbrook Street, Winnipeg, Manitoba R3A 1S1, Canada.
Chudley
A E
AE
Soni
R
R
Divekar
A
A
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003097:Collateral Circulation; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011651:Pulmonary Artery / Q000002:abnormalities*; D018633:Pulmonary Atresia / Q000235:genetics*