Deletion 22q11 in patients with interrupted aortic arch.
In our series of 27 children with various types of interruption of the aortic arch (IAA), deletion 22q11 is prevalent in patients with simple IAA type B, and is absent in patients with IAA type A and in those with associated additional major cardiac defects. Anomalies of the infundibular septum should be considered a characteristic aspect of children with IAA and deletion 22q11.
Marino
B
B
Department of Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy.
Digilio
M C
MC
Persiani
M
M
Di Donato
R
R
Toscano
A
A
Giannotti
A
A
Dallapiccola
B
B
D000015:Abnormalities, Multiple; D001013:Aorta, Thoracic / Q000002:abnormalities*; D001018:Aortic Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male