Aspectos genéticos e clínicos da síndrome do x frágil: um relato de caso

Abstract

Currently, genetically inherited diseases are the focus of several health researchers, this is due to the difficult diagnosis and treatment of these pathologies. Among them, Fragile X Syndrome (FXS) stands out, which is the main cause of inherited intellectual disability in the world. It is a disease caused by an expansion of the CGG repeat sequence in the FMR1 gene on the X chromosome. These modifications generate a series of new changes that result in a lack of mRNA production, which causes the different manifestations seen in this syndrome. This work consists of two case reports related to genetic counseling in two patients, who are half brothers, both carriers of FXS. In which, monitoring will be carried out through the analysis of medical records and interviews with patients. The study will be developed by monitoring patients who undergo genetic counseling at the genetics center of Centro Estadual de Reabilitação e Readaptação Dr. Henrique Santilo (CRER), an institution specialized in rehabilitating and readapting people with disabilities, in the municipality of Goiânia-Go. With this, the aim is to better understand this syndrome, its different forms of presentation, diagnosis, treatment and possible rehabilitative actions. In this way, it can help healthcare professionals who deal, or may potentially deal with, patients with these conditions and guarantee a better quality of life for people with FXS.