The Genetic Study Of Conotruncal Heart Defects

Section 1 22q11.2 Deletion In Patients With Conotruncal Heart DefectsObjective: To study the incidence of chromosome 22q11.2 deletion in Chinese pediatric non-syndromic conotruncal heart defects patients.Methods: A total of 36 Chinese pediatric non-syndromic conotruncal heart defects patient (21 with tetralogy of fallot, 9 with double outlet right ventricle, 1 with pulmonary artery atresia with ventricular septal defect, 1 with congenitally corrected transposition of the great arteries and 4 with transposition of the great arteries), 13 females and 23 male ranging in age from 0.03 to 11 years, were included in our study. We did fluorescence in-situ hybridization with N25/N85A3 probe to find the chromosome 22q11.2 deletion in peripheral blood cells of patients.Results: 3 patients (8. 33%), 2 with tetralogy of fallot and 1 with double outlet right ventricle, have chromosome 22q11.2 deletion.Conclusion: Chromosome 22q11.2 deletion is an important cause of non-syndromic conotruncal heart defects.Section 2Genotyping Of Short Tandem Repeat In Detection Of 22q11.2DeletionObjective: To explore an economical and efficient approach for molecular detection of chromosome 22q11.2 deletion.