Cervical aortic arch (CAA) is an uncommon congenital anomaly and is of 2 main subtypes: (i) descending aorta and aberrant subclavian artery contralateral to the side of the aortic arch, and (ii) ipsilateral descending aorta and virtually normal aortic branching pattern. Embryologically, the CAA is thought to be due either to persistence of the ipsilateral embryonic third aortic arch or failure of the normal descent of the fourth arch from a cephalic location to an intrathoracic location. No association of CAA to any genetic defect has been reported. We report 2 patients with CAA (1 of each subtype), who both had a deletion in chromosome 22q11.2 region. One patient had a right CAA with left descending aorta and aberrant right subclavian artery arising from an aortic diverticulum. The other patient had a left CAA with left sided descending aorta. The right subclavian artery origin was atretic and filled from thoracic collateral arteries. Both had separate origins of external and internal carotid arteries ipsilateral to the side of the aortic arch. Patient 2 also had a large posteriorly malaligned basilar ventricular septal defect. Fluorescent in situ hybridization with probe D22S75 demonstrated a deletion in chromosome 22q11.2 region in both patients. The ionized calcium and parathormone levels were normal in both. T cell subsets(CD4 and CD8 positive cells) were low, indicating thymic hypofunction. We conclude that CAA is part of the CATCH 22 group of defects[acronym for cardiac (C), abnormal facies (A), thymic deficiency (T), cleft palate (C), hypoparathyroidism (H) and a deletion in chromosome 22 (22)]. This expands the spectrum of cardiac defects associated with CATCH 22.