Deletions in chromosome 22q11 region in cervical aortic arch

A Kumar; J L McCombs; D W Sapire

doi:10.1016/s0002-9149(96)00772-2

Deletions in chromosome 22q11 region in cervical aortic arch

Am J Cardiol. 1997 Feb 1;79(3):388-90. doi: 10.1016/s0002-9149(96)00772-2.

Authors

A Kumar¹, J L McCombs, D W Sapire

Affiliation

¹ Department of Pediatrics, University of Texas Medical Branch 301, Galveston 77555-0367, USA.

PMID: 9036769
DOI: 10.1016/s0002-9149(96)00772-2

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aorta, Thoracic / abnormalities*
Aorta, Thoracic / diagnostic imaging
Aortic Diseases / complications
Aortic Diseases / diagnostic imaging
Aortic Diseases / genetics*
Aortography
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Female
Heart Failure / genetics
Heart Failure / pathology
Humans
Infant, Newborn
Noonan Syndrome / genetics
Noonan Syndrome / pathology