Prevalence and patterns of chromosomal abnormalities in patients suspected of genetic disorders: insights from a study in Ouagadougou, Burkina Faso

• Published in: Molecular biology reports Vol. 50; no. 11; pp. 9239 - 9247
• Main Authors: Zohoncon, Théodora Mahoukèdè, Zouré, Abdou Azaque, Ouattara, Abdoul Karim, Zida, Franck Bienvenu, Belemgnégré, Marius, Ouedraogo, Paul, Simpore, Jacques
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01-11-2023; Springer Nature B.V
• Subjects: Adult; Animal Anatomy; Animal Biochemistry; Biomedical and Life Sciences; Burkina Faso - epidemiology; Chromosome Aberrations; Chronic myeloid leukemia; Cross-Sectional Studies; Cytogenetic Analysis; Cytogenetics; Genetic disorders; Histology; Humans; Klinefelter's syndrome; Life Sciences; Morbidity; Morphology; Myeloid leukemia; Original Article; Prevalence; Trisomy; Turner's syndrome; Burkina Faso; Ouagadougou Burkina Faso; Cytogenetics; Genetics; Chromosomal abnormalities; Burkina Faso
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-023-08752-3

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.
Methods and 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.
Conclusion
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.