Epilepsia na síndrome do anel do cromossomo 14

Abstract

A patient with ring 14 chromosome is reported. On the basis of this case and of a review of 28 cases published in the literature, the frequency of clinical signs and symptoms is determined, the constant and early incidence of epileptic seizures is emphasized and their characteristics are described. The associated congenital malformations are listed and their importance for karyotyping and consequent detection of new cases is emphasized.