Article
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.
Genomics - 1 May 1991
Scambler P J, Carey A H, Wyse R K, Roach S, Dumanski J P, Nordenskjold M, Williamson R
Abstract excerpt
DiGeorge syndrome (DGS) is a developmental field defect of the third and fourth pharyngeal pouches. It is associated with deletion of 22q11 in 11% of cases. Molecular genetic analysis with probes from 22q11-pter reveals that a subset of markers is hemizygous in DGS patients with normal karyotypes. There is no apparent difference in the phenotype or the severity of the disorder between patients with the smallest...
Topics
- Cell Line
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Densitometry
- DiGeorge Syndrome
- Genetic Markers
- Humans
- Nucleic Acid Hybridization
- Phenotype