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...
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