Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization
Demczuk, S.; Desmaze, C.; Aikem, M.; Prieur, M.; Ledeist, F.; Sanson, M.; Rouleau, G.; Thomas, G.; Aurias, A.
Annales de Genetique 37(2): 60-65
1994
ISSN/ISBN: 0003-3995 PMID: 7985979 Document Number: 435526
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 studied, the deletion encompasses the 6 loci tested, while for one, only the most telomeric of these loci is conserved. The last patient does not show any deletion with the probes used.