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