PP20. DETECTION OF 22q11.2 DELETION SYNDROME BY FLUORESCENT in situ HYBRIDIZATION (FISH)
D. DRAKULIĆ1, M. Seović1, G. Čuturilo2, I. Jovanović2, M. Stevanović1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro; 2. Department of Pediatric Cardiology, University Children's Hospital, Belgrade, Serbia and Montenegro e-mail: drcad@eunet.yu
*Corresponding Author:
page: 56

Abstract

The 22q11.2 deletion syndrome is the most common microdeletion syndrome, caused by loss of a specific region of long arm of one of the chromosomes 22. Deletion 22q11.2 is asssociated with a few described syndromes: DiGeorge, Velocardiofacial (Shprintzen), Conotruncal Anomaly Face syndrome, Cayler Cardiofacial and Autosomal Dominant Opitz G/BBB syndrome. This deletion is found in about 1of every 3000 children, and is characterized by cardiac malformations, craniofacial features, cleft palate, thymic hypoplasia and hypoparathyroidism. About 74% of the patients have congenital heart defects, most common of which is Tetralogy of Fallot. This cardiac anomaly consists of four abnormalities: ventricular septal defect, pulmonic stenosis, hypertrophy of the right ventricle and aorta "overrides" the ventricular septal defects. The aim of our work was prenatal and postnatal detection of 22q11.2 deletion in patients with clinical features of DiGeorge Syndrome and Tetralogy of Fallot. Since conventional chromosome analysis has limitations in detections deletion 22q11.2, our method of choice was FISH. FISH is highly sensitive method, based on specific hybridization of the target DNA fixed on slides and labelled DNA probe. Here we present detection of 22q11.2 microdeletion using two color probe mixture that contains the Spectrum Orange TUPLE1 (HIRA) probe which hybridizes to the band 22q11.2, and the Spectrum Green LSI ARSA gene control probe that maps at 22q13.3. By introducing FISH technique, prenatal and postnatal detection of 22q11.2 deletion will be improved in our country .




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