Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

C Desmaze; P Scambler; M Prieur; S Halford; D Sidi; F Le Deist; A Aurias

doi:10.1007/BF00202489

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

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

Authors

C Desmaze¹, P Scambler, M Prieur, S Halford, D Sidi, F Le Deist, A Aurias

Affiliation

¹ URA 620 CNRS, Institut Curie, Paris, France.

PMID: 8444474
DOI: 10.1007/BF00202489

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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