Deletions in chromosome 22q11 region in cervical aortic arch.
Two patients with cervical aortic arch are described, both with deletions in chromosome 22q11 region, and thymic hypofunction. This suggests that cervical aortic arch is part of the spectrum of the CATCH 22 group of defects.
Kumar
A
A
Department of Pediatrics, University of Texas Medical Branch 301, Galveston 77555-0367, USA.
McCombs
J L
JL
Sapire
D W
DW
D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001018:Aortic Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D001027:Aortography; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006333:Heart Failure / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D009634:Noonan Syndrome / Q000235:genetics / Q000473:pathology