MOLECULAR CYTOGENETIC ANALYSIS OF A SERIES OF 23 DIGEORGE-SYNDROME PATIENTS BY FLUORESCENCE IN-SITU HYBRIDIZATION

Authors
DEMCZUK S DESMAZE C AIKEM M PRIEUR M LEDEIST F SANSON M ROULEAU G THOMAS G AURIAS A
Citation
S. Demczuk et al., MOLECULAR CYTOGENETIC ANALYSIS OF A SERIES OF 23 DIGEORGE-SYNDROME PATIENTS BY FLUORESCENCE IN-SITU HYBRIDIZATION, Annales de genetique, 37(2), 1994, pp. 60-65
Citations number
30
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
37
Issue
2
Year of publication
1994
Pages
60 - 65
Database
ISI
SICI code
0003-3995(1994)37:2<60:MCAOAS>2.0.ZU;2-E
Abstract
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. Fou r patients display a cytogenetically visible interstitial deletion in band 22q11.2, whereas the other 18 patients exhibit a molecular deleti on evidenced only by FISH analysis. For 21 of the patients studied, th e 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.