Figure 1. Down-Klinefelter syndrome and karyotype 48,XXY,+21.
Figure 1A: Index child with Down phenotype; Figure 1B: Karyotyping analysis revealed 45 autosomes and three sex chromosomes with the presence of double aneuploidy: extra sex chromosome X (XXY pattern) and extra chromosome 21, consistent (marked in boxes) with Down-Klinefelter Syndrome (48,XXY,+21).
