INTERSTITIAL DELETION OF 22Q11 IN DIGEORGE-SYNDROME DETECTED BY HIGH-RESOLUTION AND MOLECULAR ANALYSIS

Two patients with DiGeorge syndrome (DGS), one with and one without ch aracteristic dysmorphic facial features, were studied by high resoluti on 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 ana lysis, in particular, is most useful in screening for 22q11.2 segmenta l monosomy in patients with DGS and DGS-related features.