What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature

Abstract Background Double aneuploidies - especially in combination with structural aberrations - are extremely rare among liveborns. The most frequent association is that of Down (DS) and Klinefelter syndromes (KS). We present the case of a male newborn with a unique 47,XY,+ 21[80%]/48,XY,+i(X)(q10...

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Bibliographic Details
Main Authors: Eva Pinti, Anna Lengyel, Gyorgy Fekete, Iren Haltrich
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s12887-019-1905-9