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Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

โœ Scribed by C. Desmaze; P. Scambler; M. Prieur; S. Halford; D. Sidi; F. Deist; A. Aurias

Book ID
104661731
Publisher
Springer
Year
1993
Tongue
English
Weight
410 KB
Volume
90
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

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.

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