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. 1993 Feb;90(6):663-5.
doi: 10.1007/BF00202489.

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

C Desmaze  1 , P Scambler, M Prieur, S Halford, D Sidi, F Le Deist, A Aurias
Affiliations

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

C Desmaze et al. Hum Genet. 1993 Feb.

Abstract

In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by high resolution banding.

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