Evaluation of clinical profile in patients from Western and Southern Algeria indicates prevalence of karyotypic, autosomal and gonosomal abnormalites

Abstract

This work presents objectives that are based on the identification of the clinical profile of patients with polymalformative syndromes. It consists on a determination of the prevalence and the type of chromosomal abnormality for each group of patients, and constitutes the first retrospective study on a sample of 196 cases referred for postnatal cytogenetic study in the service of cytogenetic and molecular biology laboratory within the University Hospital of Oran November 1, 1954. Through this study which spanned a year and a half from January 2020 until July 2021, the practical interest and the important role of genetic counseling were highlighting. The results show that 30.6% of the referred patients have an abnormal karyotype, 69.4% have a normal karyotype, 78.3% have an autosomal abnormality, and 21.7% have a gonosome abnormality. Down's syndrome represented the most frequent 78.4% reference pattern among the category of abnormal numbers and autosomes. The karyotypes were carried out for these patients in standard Giemsa staining in order to highlight a possible anomaly in number or structure and to confirm the diagnosis made, to provide them with better therapeutic management by the following doctors. FISH also used to confirm some results. These results are mostly in agreement with the data in the literature. It’s important to note that the care is not only medical; it is also social and rehabilitative. In order to improve the vital prognosis, as well as the quality and life expectancy of patients.