Cervical aortic arch associated with 22q11.2 deletion.
A 16-year-old boy had cervical aortic arch associated with 22q11.2 deletion. This case is the first one reported of cervical aortic arch in which deletion within the 22q11.2 band was detected by the fluorescent in situ hybridization (FISH) method.
Kazuma
N
N
Department of Pediatrics, Tokyo Women's Medical College, Daini Hospital, 2-1-10 Nishiogu Arakawa-ku, Tokyo 116, Japan.
Murakami
M
M
Suzuki
Y
Y
Umezu
R
R
Murata
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001011:Aorta / Q000002:abnormalities*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013577:Syndrome