Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.
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.
Desmaze
C
C
URA 620 CNRS, Institut Curie, Paris, France.
Scambler
P
P
Prieur
M
M
Halford
S
S
Sidi
D
D
Le Deist
F
F
Aurias
A
A
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