Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y |
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| Authors: | J Alliet N Leporrier C Lebris D Gourdier |
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| Institution: | Laboratoire de Cytologie Génitale, Pr J. Izard, CHU, Cǒte de Nacre, 14033 Caen Cedex, France |
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| Abstract: | A case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy. |
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| Keywords: | Prenatal diagnosis Klinefelter's syndrome Isochromosome Xq Mosaicism |
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