Human Genetics & Embryology

Department of Health Training and Research Unit, Thies University, Thies, Senegal

Publications

• Case Series   
  Disorders of Sex development 46, XY SRY (-) vs. 46, XX SRY (+): About 2 Cases
  Author(s): Mame Venus Gueye*, Ndiaye Arame, Diop Ndiaga, Diallo Mama Sy, Gueye Fatou Diop, Diallo Adji Dieynaba, Diallo Abdoulaye Séga, Ngom Aminata Issa, Ndiade Amadou, Diatta Ange Lucien, Diatta Robert and Faye Omar
  
  Introduction: Disorders or anomalies of Sex differentiation or Development (DSD),are congenital conditions during which the chromosomal, gonadal, and anatomical sexes are atypical. Cytogenetics and molecular genetics are essential in the classification of these variations by Karyotyping and searching for variants. Thus, we selected 2 patients of female civil status among those sent for diagnosis of a DSD and aim to do karyotype but also to verify the presence of the steroid genic region of the Y chromosome (SRY) by Polymerase Chain Reaction (PCR). Materials and methods: We proceeded to a peripheral venous blood sample in a heparinized tube for the karyotype, and another tube with Ethylene Diamine Tetra Acetic acid (EDTA) for DNA extraction to search for the presence of the SRY gene by PCR. Results: At the karyotype.. Read More»
  DOI: 10.37421/2161-0436.2023.14.220

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