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- W1999669989 abstract "Paciente de 30 años de edad, a la que a las 20 semanas de gestación se le realiza una amniocentesis por presentar feto con pies equinovaros, hiperecogeneicidad intestinal y quiste de los plexos coroideos. En el estudio citogenético se diagnosticó una trisomía parcial del brazo corto del cromosoma 5, de novo. Se analizan los hallazgos necrópsicos y el “síndrome 5p”, asi como la relación entre hiperecogenicidad intestinal y la aparición de cromosomopatías. We report the case of a 30-year-old woman who underwent amniocentesis at 20 weeks of gestation since the fetus showed equinovarus feet, hyperechogenic fetal bowel and choroid plexus cyst. Cytogenetic study identified de novo partial trisomy of the short arm of chromosome 5. We analyze the autopsy findings and “5p syndrome” as well as the association between intestinal hyperechogenicity and the development of abnormal chromosomes." @default.
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- W1999669989 date "2012-03-01" @default.
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- W1999669989 title "Diagnóstico prenatal de una trisomia parcial 5p asociada a hiperecogeneicidad intestinal" @default.
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- W1999669989 doi "https://doi.org/10.1016/j.gine.2010.10.002" @default.
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