Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis |
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Authors: | Sifakis Stavros Anagnostopoulou Katherine Plastira Konstantina Vrachnis Nikolaos Konstantinidou Anastasia Sklavounou Evangelia |
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Institution: | Department of Obstetrics & Gynecology, University Hospital of Heraklion, Crete, Greece. |
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Abstract: | Coexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv947]/47,XY,+1313] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera. |
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