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

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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.

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.

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Data Availability

No Data associated in the manuscript.

Abbreviations

FISH:

Fluorescence in situ hybridization

HOSCO:

Hôpital Saint Camille de Ouagadougou

ISCN:

International System for Human Cytogenetic Nomenclature

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Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

Author information

Authors and Affiliations

  1. Hôpital Saint Camille de Ouagadougou (HOSCO), Ouagadougou, 09 BP 444, Burkina Faso

    Théodora Mahoukèdè Zohoncon, Marius Belemgnégré, Paul Ouedraogo & Jacques Simpore

  2. Faculté des Sciences de la Santé, Université Saint Thomas d’Aquin (USTA), Ouagadougou, 06 BP 10212, Burkina Faso

    Théodora Mahoukèdè Zohoncon, Franck Bienvenu Zida & Jacques Simpore

  3. Département de biomédecine et de santé publique, Institut de recherche en sciences de la santé (IRSS/CNRST), Ouagadougou, 03 BP 7192, Burkina Faso

    Abdou Azaque Zouré

  4. Université Norbert Zongo/Centre Universitaire de Manga, Koudougou, BP 376, Burkina Faso

    Abdoul Karim Ouattara

Authors
  1. Théodora Mahoukèdè Zohoncon
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  2. Abdou Azaque Zouré
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  3. Abdoul Karim Ouattara
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by [Théodora Mahoukèdè Zohoncon], [Abdou Azaque Zouré] and [Abdoul Karim Ouattara]. The first draft of the manuscript was written by [Théodora Mahoukèdè Zohoncon] and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Théodora Mahoukèdè Zohoncon.

Ethics declarations

Ethics approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Institutional Ethics Committee of HOSCO (December 21, 2017/No: 2017-12-010).

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Written informed consent was obtained from the parents. The adults gave their own informed consent.

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Not Applicable.

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The authors have no relevant financial or non-financial interests to disclose.

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Zohoncon, T.M., Zouré, A.A., Ouattara, A.K. et al. Prevalence and patterns of chromosomal abnormalities in patients suspected of genetic disorders: insights from a study in Ouagadougou, Burkina Faso. Mol Biol Rep 50, 9239–9247 (2023). https://doi.org/10.1007/s11033-023-08752-3

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