1. The most relevant chromosomal abnormalities in the north of Rio Grande do Sul, Brazil: 26 years of cytogenetic analysis
- Author
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José Eduardo Vargas, Julia Vanini, Sófia Forcellini, Bernardo Zoehler, Ibon Tamayo-Uria, and Carmen Silvia Busin
- Subjects
brazilian chromosomal abnormalities ,karyotype ,long-term cytogenetic analysis ,genetic counselling service ,Biology (General) ,QH301-705.5 ,Human anatomy ,QM1-695 ,Physiology ,QP1-981 - 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.
- Published
- 2019
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