Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.
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.
Demczuk
S
S
Laboratoire de Génétique des Tumeurs, INSERM CJF9201, Institut Curie, Paris, France.
Desmaze
C
C
Aikem
M
M
Prieur
M
M
Ledeist
F
F
Sanson
M
M
Rouleau
G
G
Thomas
G
G
Aurias
A
A
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004062:DiGeorge Syndrome / Q000097:blood / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D015345:Oligonucleotide Probes; D010280:Parathyroid Glands / Q000473:pathology; D010641:Phenotype; D017384:Sequence Deletion; D016176:T-Lymphocyte Subsets; D013950:Thymus Gland / Q000473:pathology
D005819:Genetic Markers; D015345:Oligonucleotide Probes