Detección de un mosaico de trisomía 21 en líquido amniótico

María Paula Prieto; María Ximena Arteaga; Isabel Fernandez; Sharon  Lechtig; Carolina Ciro; Valentina  Maldonado; Luis Gustavo Celis

doi:10.22490/24629448.3698

Vol. 18 No. 33 (2020)

Published 2020-02-10

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Detection of a mosaicism of trisomy 21 in amniotic liquid

DOI: https://doi.org/10.22490/24629448.3698

María Paula Prieto

María Ximena Arteaga

Isabel Fernandez

Sharon Lechtig

Carolina Ciro

Valentina Maldonado

Luis Gustavo Celis

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Abstract
References

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.

keywords: Down's Syndrome, Mosaicism, Abnormal Karyotype, Cell Culture Techniques, Prenatal Diagnosis, Genetic Counseling

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Prieto, M. P., Arteaga, M. X., Fernandez, I., Lechtig, S., Ciro, C., Maldonado, V., & Celis, L. G. (2020). Detection of a mosaicism of trisomy 21 in amniotic liquid. NOVA Biomedical Sciences Journal, 18(33). https://doi.org/10.22490/24629448.3698

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Detection of a mosaicism of trisomy 21 in amniotic liquid

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