Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization
- 1 February 1993
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 90 (6) , 663-665
- https://doi.org/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.Keywords
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