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What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication.
Mergener, Rafaella; Nascimento, Lívia Polisseni Cotta; Böttcher, Ana Kalise; Nunes, Marcela Rodrigues; Zen, Paulo Ricardo Gazzola.
Afiliación
  • Mergener R; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.
  • Nascimento LPC; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.
  • Böttcher AK; Undergraduate Program in Biomedical Science, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil.
  • Nunes MR; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.
  • Zen PRG; Medical Genetics Resident, UFCSPA/Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Rio Grande do Sul, Brazil.
Cell Biochem Funct ; 42(7): e4121, 2024 Sep.
Article en En | MEDLINE | ID: mdl-39264303
ABSTRACT
What is the definition of Syndrome? Since the beginning of studies in genetics, certain terminologies have been created and used to define groups of diseases or alterations. With the advancement of knowledge and the emergence of new technologies, the use of basic concepts is being done in a mistaken or often confusing way. Because of this, revisiting and readjusting the old terms becomes imminent. Here, we explore these concepts and their use, through a literature compilation of an already well-defined genetic alteration (16q11.2 microduplication). We bring comparisons in clinical and molecular scope of the alteration itself and its diagnostic methods, to improve the report of cases, rescuing terminologies and their applicability nowadays.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 Límite: Humans Idioma: En Revista: Cell Biochem Funct Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 Límite: Humans Idioma: En Revista: Cell Biochem Funct Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido