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Detección de un mosaico de trisomía 21 en líquido amniótico

Detección de un mosaico de trisomía 21 en líquido amniótico




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Reporte de Caso

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Prieto Soler, M. P., Arteaga Pichardo, M. X., Fernández, I., Lechtig, S., Ciro, C. M., Maldonado, V., & Celis, L. G. (2020). Detección de un mosaico de trisomía 21 en líquido amniótico. NOVA, 18(33), 35-42. https://revistas.unicolmayor.edu.co/index.php/nova/article/view/1037

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Maria Paula Prieto Soler
    Maria Ximena Arteaga Pichardo

      Isabel Fernández

        Sharon Lechtig

          Carolina Maria Ciro

            Valentina Maldonado

              Luis Gustavo Celis


                DETECTION OF A MOSAICISM OF TRISOMY 21 IN AMNIOTIC LIQUID

                Abstract:A result with chromosomal alteration was analyzed from a database consisting of a total of 4755 samples of amniotic fluid extracted by amniocentesis with indication of the attending physician, serum risk and advanced maternal age.

                This report presents the detection of a mosaicism of trisomy 21 in amniotic fluid, using G- Banding where 20 metaphases were analyzed.

                The results obtained document a chromosomal composition 47, XY + 21 and 46, XY with a 9:11 ratio with respect to the metaphases analyzed, confirming the diagnosis of Down syndrome secondary to mosaicism.


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