title: Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.
abstract: 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.
authors.affiliation: Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Novelli
authors.forename: M
authors.initials: M
authors.lastname: Sabani
authors.forename: A
authors.initials: A
authors.lastname: Caiola
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: 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