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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.

Type

Journal article

Journal

Hum Genet

Publication Date

02/1993

Volume

90

Pages

663 - 665

Keywords

Adult, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Female, Genetic Testing, Humans, In Situ Hybridization, Fluorescence, Infant, Male