ABSTRACT
Hong Kong Med J 1995;1:263-5 | Number 3, September 1995
CASE REPORT
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.
Key words: DiGeorge Anomaly; In situ hybridization, fluorescence
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