title: Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.
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.
authors.affiliation: URA 620 CNRS, Institut Curie, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Desmaze
authors.forename: P
authors.initials: P
authors.lastname: Scambler
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: S
authors.initials: S
authors.lastname: Halford
authors.forename: D
authors.initials: D
authors.lastname: Sidi
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: A
authors.initials: A
authors.lastname: Aurias
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male