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The most relevant chromosomal abnormalities in the north of Rio Grande do Sul, Brazil: 26 years of cytogenetic analysis.
Vargas, José Eduardo; Vanini, Julia; Forcellini, Sófia; Zoehler, Bernardo; Tamayo-Uria, Ibon; Busin, Carmen Silvia.
Afiliação
  • Vargas JE; a Institute of Biological Science (ICB) , University of Passo Fundo , Passo Fundo , Brazil.
  • Vanini J; a Institute of Biological Science (ICB) , University of Passo Fundo , Passo Fundo , Brazil.
  • Forcellini S; a Institute of Biological Science (ICB) , University of Passo Fundo , Passo Fundo , Brazil.
  • Zoehler B; a Institute of Biological Science (ICB) , University of Passo Fundo , Passo Fundo , Brazil.
  • Tamayo-Uria I; b Department of Statistics , Harvard University , Cambridge , MA , USA.
  • Busin CS; a Institute of Biological Science (ICB) , University of Passo Fundo , Passo Fundo , Brazil.
Ann Hum Biol ; 46(1): 88-91, 2019 Feb.
Article em En | MEDLINE | ID: mdl-30835556
ABSTRACT
From 1992 to 2018, cytogenetic analyses were successfully performed to explore the chromosomal abnormalities of 729 patients, who utilised a pioneering counselling service in the city of Passo Fundo in the northern part of the Brazilian state of Rio Grande do Sul. This city is characterised by a large conglomerate of private and public hospitals. A classical cytogenetic analysis and G-banding were performed using the patient samples. Although normal karyotypes were observed for 562 of the cases, 167 individuals evidenced chromosomal alterations. Among those, 110 exhibited numerical alterations (65.86%), 41 demonstrated structural modifications (24.55%) and 16 showed both numerical and structural chromosomal changes (9.58%). This study describes the diversity of the chromosomal alterations in this region, which have not been previously examined. After 26 years of study, the findings are discussed herein in a self-critical form.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Ann Hum Biol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Brasil

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Ann Hum Biol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Brasil