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DOI 10.1080/03014460.2019.1586995

Медицинская библиотека · Annals of human biology · 2019

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

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Аннотация

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.

Для цитирования: Vargas José Eduardo, Vanini Julia, Forcellini Sófia, Zoehler Bernardo, Tamayo-Uria Ibon, Busin Carmen Silvia. The most relevant chromosomal abnormalities in the north of Rio Grande do Sul, Brazil: 26 years of cytogenetic analysis.. Annals of human biology. 2019. DOI: 10.1080/03014460.2019.1586995.

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