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ABSTRACT: Introduction Cardiac defects are among the most common malformations that are found at birth, and they represent an important medical problem in pediatric age. Congenital cardiac defects, and in particular the atrioventricular septal defects (AVSD), are present with a frequency up to 50% in individuals affected by Down syndrome. AVSD are a broad spectrum of malformations that arise from abnormal fusion of the endocardial cushions. To identify genes involved in AVSD we have analyzed the heart gene expression profile in fetuses affected by Down syndrome, with or without AVSD. Methods Fetal hearts were obtained from therapeutic abortions less than 8 hours after death assessment. Half of the heart, representative of all four chambers, was used to extract total RNA to be used in the microarray experiments while the other half was fixed, paraffin embedded and used to confirm and characterize the CHD. Ten heart samples, derived from male fetuses at 21 weeks of gestation, were selected: 3
07/2003;
