Resultados cromossômicos da Síndrome de DOWN

Abstract

Introduction: Down syndrome (DS) is the main cause of genetically defined intellectual disability and congenital birth defects. Despite being one of the first genetic diseases identified, only recently, thanks to the phenotypic analysis of genetic models of mice, it is started to understand how trisomy can impact cognitive function. Objective: To discuss the genetic aspects of Down Syndrome and its implications for the diagnosis and prognosis of the patient. Methodology: bibliographical review, with exploratory descriptive characteristic. Searches were performed in articles and scientific journals related to the area, in Pubmed, Scielo and digital libraries databases, using the following keywords: Down syndrome, genetic aspects, diagnosis of Down syndrome, karyotype, prognosis. Inclusion criteria were articles published between 2010 and 2020. Articles and journals with publication less than 2010 were excluded. Results: The impairment of the proliferation of neuronal precursors extends to adult neurogenesis and can affect learning and memory. Neurodegenerative mechanisms also contribute to cognitive impairment in DS. Potential mechanisms that generate defects in neurogenesis and neurodegenerative processes lead to altered formation of neural circuits and impair cognitive function