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Using classical cytogenetic (G-banding karyotyping) techniques and Fluorescence In Situ Hybridization (FISH) incidences of 22q11.2 microdeletion syndrome were studied in Western Indian population. A total of 78 cases were reported for diagnosis, of which 10 (12.8%) were found positive for 22q11.2 microdeletion syndrome. FISH analysis for 22q11.2 should be performed on children having heart defects and related diseases.
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Author(s): Vaniawala Salil and Gadhia Pankaj
22q11.2, microdeletion syndrome, classical cytogenetic, FISH, Western India