SÍNDROME DE DOWN: ASPECTOS HISTÓRICOS, GENÉTICOS, CLÍNICOS E PERSPECTIVAS TERAPÊUTICAS
SÍNDROME DE DOWN: ASPECTOS HISTÓRICOS, GENÉTICOS, CLÍNICOS E PERSPECTIVAS TERAPÊUTICAS
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DOI: https://doi.org/10.22533/at.ed.2492408037
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Palavras-chave: Síndrome de Down, Genética, Mutações Cromossômicas.
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Keywords: Down Syndrome, Genetics, Chromosomal Mutations.
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Abstract: To discuss the genetic characteristics, risk factors, physical and clinical aspects, advances and future prospects of Down Syndrome (DS). DS is the most common genetic alteration in humans, regardless of ethnicity, gender or social class. It is a genetic condition derived from alterations in chromosome 21. This alteration can occur during gestation, during the division of the embryo's cells, by simple trisomy 21, chromosomal translocation or mosaicism, affecting the individual's development, determining some peculiar physical and cognitive characteristics, such as short stature, facial dysmorphia, simian fold, epicanthic fold, generalized muscular hypotonia, congenital complications, orthodontic, audible, visual and cardiac disorders and intellectual delay.This article covers information on DS. It explores diverse topics including chromosomal mutations, risk factors, physical and clinical aspects, diagnosis and treatment of the syndrome, advances and future prospects. This study aims to address fundamental information, contributing to the dissemination of knowledge in this field which is constantly advancing.
- Antonia Claudia da Conceição Palmeira
- Julyanne Nataly Dias Barros
- Edielson de Oliveira de Souza
- Wilder Rodrigues Cunha Leal
- Walisson Araujo Sousa
- Emanoel da Luz Silva Sousa
- Maiza de Souza Palmeira
- Larissa Rodrigues de Sousa
- Eliel Barbosa Teixeira
- Jaqueline Diniz Pinho
