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

• Главные авторы: Eva Pinti (Автор), Anna Lengyel (Автор), Gyorgy Fekete (Автор), Iren Haltrich (Автор)
• Формат: ‌
• Опубликовано: BMC, 2020-01-01T00:00:00Z.
• Предметы: article
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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...