CASOS COM SUSPEITA DE SÍNDROME DO X FRÁGIL NO BRASIL: LEVANTAMENTO DE DADOS NO SINASC DURANTE OS ANOS DE 2002 A 2022 E BUSCA NA LITERATURA

• DOI: https://doi.org/10.22533/at.ed.890142507056

• Palavras-chave: Doença Genética, Hereditariedade, Síndrome Genética, Pré – Mutação.

• Keywords: Genetic Disease, Heredity, Genetic Syndrome, Pre-mutation.

• Abstract: Fragile X Syndrome (FXS) is a rare genetic condition, it is recognized as the main hereditary cause of mental retardation and the second most common genetic cause of mental disability, it affects individuals of all ethnic groups and races, although its prevalence is low. There is a lack of information regarding this syndrome which makes knowledge difficult. Due to this, the objective of this study was to know the frequency of cases of patients with suspected FXS in Brazil from the years 2002 to 2022, as well as to carry out a survey on the syndrome in the literature. The research was carried out through the Portal for Monitoring Congenital Malformations, Deformities and Chromosomal Anomalies of the Ministry of Health of Brazil, the data obtained were collected according to the following topics: maternal age group, mother’s education, mother’s marital status, locality, place of birth, race/color, child’s sex, types of pregnancy, and month of pregnancy onset. In addition, a search in the literature was carried out of the cases registered during the years 2002 to 2022. Six cases were registered during the selected years, 3 of these cases occurred in Bahia, which was the state with the highest occurrence, there were 4 diagnosed male patients, where 3 of these patients were born to mothers in the age group of 30 to 34 years old. In the literature search, it was possible to observe 3 male patients with the diagnosis, and only 1 female, all presenting clinical characteristics of the syndrome. Therefore, it is of great importance that there is genetic counseling for prevention and even better treatment in case someone ends up being diagnosed with the syndrome.