Maternal translocation t(13:18)(q34:q11) and Edwar''s syndrome in a fetus: 47, XY, t(13:18)(q34:q11) + 18 |
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| Authors: | Stefanija,Markovi&# ,Joë lle,Boué ,Miomir,Krsti&# ,Vohn,& Scar ulovi&# ,SLobodan,DO&# CI&# SLAVENKA AD&# I&# |
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| Affiliation: | Clinic of Gynecology and Obstetrics, Faculty of Medicine, Beograd, Yugoslavia;Institut National de la Santéet de la Recherche Médicale, Unitéde Recherches de Biologie Prénatale, U. 73 - Paris, France;Institute of Pathology, Faculty of Medicine, Beograd, Yugoslavia |
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| Abstract: | A 32-year-old woman, who presented with four spontaneous abortions, was found to have a balanced translocation: 46,XX,t(13:18)(q34:q11). In the last pregnancy an amniocentesis was done. Abnormal constitution of the fetus had been detected: 47,XY,t(13:18)(q34:q11) + 18, and an abortion was induced. Examination of the fetal tissue confirmed the finding. The fetus showed the characteristics of Edward's syndrome. Through the patient's pedigree it was discovered that balanced translocation appeared in three generations. |
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| Keywords: | Balanced translocation chromosome 13 18 prenatal diagnosis spontaneous abortion |
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