Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.
We describe the use of a FISH protocol for detecting chromosome microdeletions in peripheral blood smear leukocytes. This method has the advantage of a smaller sample requirement than classical metaphase chromosome analysis and the potential for analysis of a larger number of chromosome microdeletions using a routine blood smear. A selected series of 10 DiGeorge syndrome (DGS) and 12 Williams-Beuren syndrome (WBS) patients were correctly diagnosed by this method confirming results obtained by molecular cytogenetic metaphases. These results support effectiveness of interphase FISH analysis on peripheral blood smears as a focused, single-step method for the detection of chromosome microdeletions.
Novelli
A
A
Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.
Sabani
M
M
Caiola
A
A
Digilio
M C
MC
Giannotti
A
A
Mingarelli
R
R
Novelli
G
G
Dallapiccola
B
B
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D004062:DiGeorge Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D008297:Male; D018980:Williams Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics