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Hum Genet. 1993 Feb;90(6):663-5.

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

Author information

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

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.

PMID:
8444474
DOI:
10.1007/bf00202489
[Indexed for MEDLINE]

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