Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears

• Published in: Molecular and cellular probes Vol. 13; no. 4; pp. 303 - 307
• Main Authors: Novelli, A, Sabani, M, Caiola, A, Digilio, MC, Giannotti, A, Mingarelli, R, Novelli, G, Dallapiccola, B
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.08.1999
• Subjects: Adolescent; Child; Child, Preschool; Chromosomes, Human, Pair 22; Chromosomes, Human, Pair 7; DiGeorge Syndrome - blood; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; Female; FISH, chromosome microdeletion, DiGeorge syndrome, Williams-Beuren syndrome; Humans; In Situ Hybridization, Fluorescence - methods; Infant; Male; Williams Syndrome - blood; Williams Syndrome - diagnosis; Williams Syndrome - genetics; FISH, chromosome microdeletion, DiGeorge syndrome, Williams-Beuren syndrome
• ISSN: 0890-8508; 1096-1194
• DOI: 10.1006/mcpr.1999.0252

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.