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.
Cuturilo
Goran
G
University Children's Hospital, Tirsova 10, 11000, Belgrade, Serbia. udkgenetika@udk.bg.ac.yu
Drakulic
Danijela
D
Stevanovic
Milena
M
Jovanovic
Ida
I
Djukic
Milan
M
Miletic-Grkovic
Slobodanka
S
Atanaskovic-Markovic
Marina
M
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