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When Edwards meets Klinefelter: a new case of double Aneuploidy


Journal of Pediatrics & Neonatal Care
Ziad Chebel, Stephanie Krayem, Yolla Nassif, Dany Al Hamod

Abstract

This article describes a new occurrence of double aneuploidy Edward syndrome/Klinefelter syndrome in a Lebanese baby boy. Given the fact that Edward syndrome and Klinefelter syndrome are relatively common aneuploidies, to date, scant published cases of the double aneuploidy Trisomy 18/XXY have been described in the literature. The predominant features of Trisomy 18 makes it clinically challenging to diagnose or suspect Klinefelter syndrome when these two conditions coexist. Our infant had features of trisomy 18 with overlapping features of Klinefelter. The prognosis is poor, the genetic counseling remains challenging and the possibility of combined autosome and sex chromosome aberrations should be raised even in the absence of clinical manifestations of the latter

Keywords

Trisomy 18/XXY. non-consanguineous

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