Article
Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.
American journal of medical genetics - 24 Jul 1998
Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer R A
Abstract excerpt
Interruption of the aortic arch (IAA) is a severe malformation of the heart with known association to DiGeorge syndrome (DGS) and 22q11.2 hemizygosity. The aim of this study was to establish incidence and significance of 22q11.2 hemizygosity in an unbiased sample of patients with IAA. All 15 chil...
Topics
- Aorta, Thoracic
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Female
- Genetic Testing
- Genotype
- Heart Defects, Congenital
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping
- Male
- Minisatellite Repeats
- Phenotype
- Polymerase Chain Reaction