The most relevant chromosomal abnormalities in the north of rio Grande do Sul, Brazil: twenty-six years of cytogenetic analysis

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, we discuss our findings herein in a self-critical form.

1992年至2018年间，研究人员针对巴西南里奥格兰德州北部帕苏丰杜市（Passo Fundo）开创性遗传咨询服务的729名患者，成功开展细胞遗传学分析，以探究其染色体异常情况。该市拥有庞大的公私医院集群。本研究采用患者样本完成了经典细胞遗传学分析与G显带（G-banding）技术检测。562例病例的核型表现正常，167名个体存在染色体改变。其中110例呈现染色体数目异常（占比65.86%），41例存在染色体结构变异（占比24.55%），另有16例同时出现染色体数目与结构异常（占比9.58%）。本研究阐述了该区域此前尚未被探究过的染色体异常多样性。历经26年的研究后，本文以批判性自省的形式对本次研究结果展开了讨论。