Estudio de presencia de enfermedades genéticas en niños atendidos en el dispensario médico de la ciudad de Catamayo en el periodo 2013 – 2014.

Abstract

Statistic research performed in the Catamayo’s Ambulatory Attention Unit have shown the presence of kids affected with genetic syndromes as Down syndrome, with an incidence of 1/400, this data is especially high in this canton. At the same way, it was found the presence of other syndromes as McKusick Kaufman syndrome, congenital adrenal hyperplasia syndrome, Alagille syndrome, Crouzon syndrome, Pierre Robin’s syndrome, Williams – Beure syndrome. This syndromes were found in lower proportion, since the prevalence of them are much lower in a world scale. Another group of kids who presented physical abnormalities were found, but without a genetic diagnostic that confirms or discard the presence of some genetic abnormalities. A genetic diagnostic was also performed to two patients with turner syndrome and one patient with congenital adrenal hyperplasia to determinate their illness through several techniques as family three, clinical history, karyotype. There was certain correlation between mother’s exposures to environmental factors during her pregnancy.