Double Aneuploidy 48, Xxy, +21 In Amniotic Fluid Cells At 16 Weeks Gestation

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Andrea Carolina Prieto
Carolina Torres
Daniel Jimeneza
Lev Ramireza
Luis Gustavo Celis
Isabel Fernández

Abstract

Down Syndrome and Klinefelter Syndrome are the most common disorders in the autosomal and sexual chromosomes respectively. However, the existence of the two abnormalities in the same individual is a rare anomaly. This article aims to report a case of double aneuploidy: Down syndrome Klinefelter and perform a systematic review of the alteration, related factorsand the frequently presented manifestations. We present the case of a 39-year-old patient with a pregnancy of 16 weeks of high risk gestation due to advanced maternal age with a history of Down syndrome on the paternal line, to which amniocentesis is indicated to perform a karyotype with a result of 48, XXY, + 21 [20]. Genetic counseling is done to parents, however, spontaneous management is lost by week 20.


According to literature, double aneuploidy: Down-Klinefelter Syndrome is closely related to the maternal age as a risk factor. In addition, an overlap of both syndromes is mentioned, typically the phenotypic characteristics of Down Syndrome are predominant. Finally, it will be essential to do a karyotype in any patient who presents Down Syndrome to check if there is other underlying syndrome, also constant check ups of the patient with Down-Klinefelter Syndrome during his lifetime are indispensable.

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How to Cite
Prieto, A. C., Torres, C., Jimeneza, D., Ramireza, L., Celis, L. G., & Fernández, I. (2019). Double Aneuploidy 48, Xxy, +21 In Amniotic Fluid Cells At 16 Weeks Gestation. Pediatría, 52(3), 111–117. https://doi.org/10.14295/p.v52i3.131
Section
Case report

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