The use of fluorescence in situ hybridization in the diagnosis of a case of DiGeorge anomaly

KM Tsui, YY Ng, WL Yu, TS Lam
Clinical Genetic Service, Department of Health, 2/F, Cheung Sha Wan Jockey Club Clinic, Sham Shui Po, Hong Kong

DiGeorge anomaly comprises hypoparathyroidism, thymic aplasia, conotruncal cardiac anomaly and dysmorphic features. Most cases result from a microdeletion within chromosome 22q11. We report a case of documented DiGeorge anomaly and the use of high resolution cytogenetic analysis and the fluorescence in situ hybridization technique are discussed.

Hong Kong Med J 1995;1:263-5

Key words: DiGeorge Anomaly; In situ hybridization, fluorescence