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

摘要

The presented patient’s genotype: 47,XY,+21[80%]/48,XY,+i(X)(q10),+21[20%] Partial karyogram with Giemsa-banding FISH image of a metaphase cell with three 21q22 region signals (short red arrows), three Xq arm signals (short green arrows) and one Xp arm signal (long red arrow)