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

• Asıl Yazarlar: Eva Pinti (Yazar), Anna Lengyel (Yazar), Gyorgy Fekete (Yazar), Iren Haltrich (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...