Abstract：
BACKGROUND: Chromosomal abnormalities contribute significantly to human morbidity and mortality, leading to various pathologies. This study aimed to assess the prevalence of chromosomal abnormalities among patients suspected of genetic disorders in Ouagadougou, Burkina Faso.
RESULTS: A descriptive cross-sectional study was conducted from January 1, 2018, to July 16, 2021, involving patients from different university hospitals in Ouagadougou. Blood samples were collected at Hôpital Saint Camille de Ouagadougou (HOSCO) and sent to the Cerba laboratory in France for cytogenetic analysis. A total of 61 cases with suspected genetic disorders were referred for cytogenetic examination. The average age of the patients was 26.81 years ± 18.92, ranging from 1 month to 68 years. Among the cases, 37 (60.65%) exhibited chromosomal abnormalities. Structural abnormalities were the most prevalent (78.38%), while number anomalies accounted for 21.62% of the cases. Chronic myeloid leukemia was detected in 59.45% of cases, followed by free and homogeneous trisomy 21 (18.91%) and sexual inversion (8.10%). Additionally, one case each of Turner syndrome and Klinefelter syndrome were identified.
CONCLUSIONS: This this study revealed a high frequency of chromosomal abnormalities, with a predominance of structural abnormalities, among patients suspected of genetic disorders in Ouagadougou. The findings emphasize the significance of genetic evaluation and counseling services in the region, particularly for autosomal abnormalities.
RESULTS: A descriptive cross-sectional study was conducted from January 1, 2018, to July 16, 2021, involving patients from different university hospitals in Ouagadougou. Blood samples were collected at Hôpital Saint Camille de Ouagadougou (HOSCO) and sent to the Cerba laboratory in France for cytogenetic analysis. A total of 61 cases with suspected genetic disorders were referred for cytogenetic examination. The average age of the patients was 26.81 years ± 18.92, ranging from 1 month to 68 years. Among the cases, 37 (60.65%) exhibited chromosomal abnormalities. Structural abnormalities were the most prevalent (78.38%), while number anomalies accounted for 21.62% of the cases. Chronic myeloid leukemia was detected in 59.45% of cases, followed by free and homogeneous trisomy 21 (18.91%) and sexual inversion (8.10%). Additionally, one case each of Turner syndrome and Klinefelter syndrome were identified.
CONCLUSIONS: This this study revealed a high frequency of chromosomal abnormalities, with a predominance of structural abnormalities, among patients suspected of genetic disorders in Ouagadougou. The findings emphasize the significance of genetic evaluation and counseling services in the region, particularly for autosomal abnormalities.
摘要：
背景：染色体异常对人类发病率和死亡率有显著影响，导致各种病理。这项研究旨在评估瓦加杜古疑似遗传性疾病患者染色体异常的患病率，布基纳法索。
结果：一项描述性横断面研究于2018年1月1日至2021年7月16日进行，涉及来自瓦加杜古不同大学医院的患者。在圣卡米尔·德瓦加杜古医院（HOSCO）收集血液样本，并送往法国的Cerba实验室进行细胞遗传学分析。共有61例疑似遗传性疾病患者接受细胞遗传学检查。患者的平均年龄为26.81岁±18.92，范围为1个月至68岁。在案件中，37例(60.65%)出现染色体异常。结构异常最普遍（78.38%），而数量异常占病例的21.62%。59.45%的病例检出慢性粒细胞白血病,其次是游离同质21三体(18.91%)和性倒置(8.10%)。此外,发现Turner综合征和Klinefelter综合征各1例.
结论：这项研究揭示了染色体异常的高频率，结构异常占主导地位，在瓦加杜古疑似遗传疾病的患者中。研究结果强调了该地区遗传评估和咨询服务的重要性，特别是常染色体异常。
结果：一项描述性横断面研究于2018年1月1日至2021年7月16日进行，涉及来自瓦加杜古不同大学医院的患者。在圣卡米尔·德瓦加杜古医院（HOSCO）收集血液样本，并送往法国的Cerba实验室进行细胞遗传学分析。共有61例疑似遗传性疾病患者接受细胞遗传学检查。患者的平均年龄为26.81岁±18.92，范围为1个月至68岁。在案件中，37例(60.65%)出现染色体异常。结构异常最普遍（78.38%），而数量异常占病例的21.62%。59.45%的病例检出慢性粒细胞白血病,其次是游离同质21三体(18.91%)和性倒置(8.10%)。此外,发现Turner综合征和Klinefelter综合征各1例.
结论：这项研究揭示了染色体异常的高频率，结构异常占主导地位，在瓦加杜古疑似遗传疾病的患者中。研究结果强调了该地区遗传评估和咨询服务的重要性，特别是常染色体异常。
