Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

• DOI: 10.1007/bf00202489
• Publication Date: 2004-08-31T02:12:28Z
• Authors: C. Desmaze; P. Scambler; M. Prieur; S. Halford; D. Sidi; F. Le Deist; A. Aurias
• Keywords: DiGeorge syndrome; Cosmid

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.