LITERATURE REVIEW: PROBLEMS RELATED TO CHROMOSOMAL ABNORMALITIES

Patricia Z. Deh*, Faïza Alassani, Philippe I. Agossou, Brahima Doukouré and Gnangoran V. Yao

ABSTRACT

Background: Chromosomal abnormalities are involved in human pathologies. They are sometimes disabling and deadly. This article based on a literature review describes the current problems related to chromosomal abnormalities in order to encourage the promotion of activities for the fight against these conditions. Methods: Investigations from 1997 to 2023 in relation to chromosomal abnormalities were listed and analyzed. This review was accompanied by references to all the literature reviewed. Results: The corresponding data reported that the problems related to chromosomal abnormalities are of several kinds. There are the insufficient and poorly accessible ease of diagnosis because of the rarity of Cytogenetic Services, the lack of equipment for diagnosis and the scarce qualified human resources in the field of cytogenetics. The epidemiological data need to be updated. In addition, there is the challenge of medical care of the complications such as recourse to surgery for malformations and treatment of associated pathologies. The insufficiency of support structures in the context of paramedical and educational (physiotherapy, speech therapy, psychomotricity) is notable. Risk factors, notably consanguinity, are still entrenched in some regions of Africa. Some patients suffer from many taboos and myths that fuel their experience because of the phenotypes corresponding to these anomalies. Conclusion: The difficulties associated to chromosomal abnormalities are due to the weak health systems. Initiatives such as the strengthening of public and private health infrastructures as well as the population awareness could be undertaken to improve the quality of life of patients.

Keywords: Chromosomal abnormalities, Problems, Medical care.