A rare association of interrupted aortic arch type C and microdeletion 22q11.2.
Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted aortic arch (IAA) type B and very rarely with type A and type C. Here we report the first case of IAA type C associated with 22q11.2 deletion in Serbia and, to the best of our knowledge, the fourth case described worldwide so far. By this report we would like to point out that all patients with IAA type C who have additional features specific for 22q11.2 microdeletion syndrome should be screened for the presence of this deletion.
University Children's Hospital, Tirsova 10, 11000, Belgrade, Serbia. udkgenetika@udk.bg.ac.yu
Goran
G
Cuturilo
Danijela
D
Drakulic
Milena
M
Stevanovic
Ida
I
Jovanovic
Milan
M
Djukic
Slobodanka
S
Miletic-Grkovic
Marina
M
Atanaskovic-Markovic
D001013:Aorta, Thoracic / Q000002:abnormalities*; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male