Abstract

PRIETO, María Paula et al. Detection of a mosaicism of trisomy 21 in amniotic liquid. Nova [online]. 2020, vol.18, n.33, pp.35-42.  Epub Dec 27, 2020. ISSN 1794-2470.  https://doi.org/10.22490/24629448.3698.

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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