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Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis
U C Franke1, P J Scambler, C Löffler
1Institut für Humangenetik, Universität Göttingen, Germany.
Clinical Genetics
|August 1, 1994
Abstract:
Two patients with DiGeorge syndrome (DGS), one with and one without characteristic dysmorphic facial features, were studied by high resolution banding, fluorescence in situ hybridization (FISH) and quantitative Southern blotting. In both patients, even in the one with no typical facial stigmata, a microdeletion within 22q11.2 was detected. FISH analysis, in particular, is most useful in screening for 22q11.2 segmental monosomy in patients with DGS and DGS-related features.