Human Genetics & Embryology

Laboratory of Cytology, Cytogenetics and Reproductive Biology, Hospital Universitary Aristide Le Dantec, Dakar, Senegal

Publications

• Case Report   
  Spontaneous Pregnancy in Mosaic Turner syndrome: Case Report and Recent Insights for Genetic and Reproductive Counselling
  Author(s): Mama SY*, Racha kamenda Ibondou, Abdoulaye Sega Diallo, Mame Vénus Gueye, Ndiaga Diop and Faye Omar
  
  Introduction: Pregnancy in mosaic Turner Syndrome (TS) occurs relatively rarely. Phenotypes of mosaic TS and fertility outcomes may vary according to the degree of mosaicism. Objective: Our study aimed to report the occurrence of spontaneous pregnancy in a case of mosaic TS and report recent recommendations in the matter of genetic counselling in that entity. Results: A 31-year-old patient was referred for cytogenetic testing after three an embryonic pregnancies. She was measured at 155 cm and weighed 57 kg. Her menarche occurred at the age of 14 and her menstrual cycles were regular. She presented high-level anti-thyroperoxydase antibodies (600 IU/ml) and normal cardiologic evaluation (echocardiography and electrocardiogram). The karyotype revealed a mosaic turner syndrome, mos 45, X /46, XX. She p.. Read More»
  DOI: 10.37421/2161-0436.2024.15.230

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