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    Detección de un mosaico de trisomía 21 en líquido amniótico

    Detection of a mosaicism of trisomy 21 in amniotic liquid

    Detection of a mosaicism of trisomy 21 in amniotic liquid

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    Prieto, María Paula
    Arteaga, María Ximena
    Fernandez, Isabel
    Lechtig, Sharon
    Ciro, Carolina
    Maldonado, Valentina
    Celis, Luis Gustavo
    Publisher
    Universidad Colegio Mayor de Cundinamarca

    Citación

           
    TY - GEN T1 - Detection of a mosaicism of trisomy 21 in amniotic liquid T1 - Detección de un mosaico de trisomía 21 en líquido amniótico AU - Prieto, María Paula AU - Arteaga, María Ximena AU - Fernandez, Isabel AU - Lechtig, Sharon AU - Ciro, Carolina AU - Maldonado, Valentina AU - Celis, Luis Gustavo UR - https://repository.unad.edu.co/handle/10596/37079 PB - Universidad Colegio Mayor de Cundinamarca AB - 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. ER - @misc{10596_37079, author = {Prieto María Paula and Arteaga María Ximena and Fernandez Isabel and Lechtig Sharon and Ciro Carolina and Maldonado Valentina and Celis Luis Gustavo}, title = {Detection of a mosaicism of trisomy 21 in amniotic liquidDetección de un mosaico de trisomía 21 en líquido amniótico}, year = {}, 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.}, url = {https://repository.unad.edu.co/handle/10596/37079} }RT Generic T1 Detection of a mosaicism of trisomy 21 in amniotic liquid T1 Detección de un mosaico de trisomía 21 en líquido amniótico A1 Prieto, María Paula A1 Arteaga, María Ximena A1 Fernandez, Isabel A1 Lechtig, Sharon A1 Ciro, Carolina A1 Maldonado, Valentina A1 Celis, Luis Gustavo LK https://repository.unad.edu.co/handle/10596/37079 PB Universidad Colegio Mayor de Cundinamarca AB 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. OL Spanish (121)
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    Abstract
    Se analizó un resultado con alteración cromosómica tomado de una base de datos conformada por un total de 4755 muestras de líquido amniótico extraídos mediante amniocentesis con indicación de su médico tratante, riesgo sérico y edad materna avanzada. En este reporte se presenta la detección de un mosaico de trisomía 21 en líquido amniótico, mediante la técnica de Banda G donde se analizaron 20 metafases. Los resultados obtenidos documentan una composición cromosómica 47, XY+21 y 46, XY con una relación 9:11 respecto a las metafases analizadas, confirmándose así el diagnostico del Síndrome de Down secundario a mosaico.
     
    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.
     
     
    College
    https://hemeroteca.unad.edu.co/index.php/nova/article/view/3698/3763
    Format
    application/pdf
    Type of digital resource
    info:eu-repo/semantics/article
    info:eu-repo/semantics/publishedVersion
    article
    article
    article
    URI
    https://repository.unad.edu.co/handle/10596/37079
    URL source
    https://hemeroteca.unad.edu.co/index.php/nova/article/view/3698
    10.22490/24629448.3698
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