Article
Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.
Annales de genetique - 1 Jan 1994
Demczuk S, Desmaze C, Aikem M, Prieur M, Ledeist F, Sanson M, Rouleau G, Thomas G, Aurias A
Abstract excerpt
The authors have studied a series of 23 DiGeorge syndrome patients by prometaphase chromosome analysis and/or by FISH with a set of 6 cosmid probes spanning the previously described commonly deleted region. Four patients display a cytogenetically visible interstitial deletion in band 22q11.2, whereas the other 18 patients exhibit a molecular deletion evidenced only by FISH analysis. For 21 of the patients...
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