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AJMA_33437_sm_Figure2.pdf56KFig. 2. Standard chromosomal analysis. A: patient 1 showed a karyotype 46,Y,der(X),t(X;Y)(p22;q12)A), B: patient 2, 46,X,der(X),t(X;Y)(p22;q12) (Figure 2B). The Olympus/Applied Imaging CYTOVISION (Genus) system was used to obtain the fluorescent and FISH images.
AJMA_33437_sm_Figure3.pdf1506KFig. 3. FISH analysis for patient 1 with Tel Vysion mixture 1 (1p Spectrum Green, 1q Spectrum Orange, Xp/Yp Spectrum Orange and Spectrum Green, CEP X Spectrum Aqua) showed the following results, A One signal on Yp (normal Y), one centromeric signal on X chromosome (der X) and two signals on 1p/1q (normal chromosomes 1), B: FISH analysis with Tel Vysion mixture 2 (2p Spectrum Green, 2q Spectrum Orange, Xq/Yq Spectrum Orange and Spectrum Green, CEP X Spectrum Aqua) showed: one signal on Yq (normal Y) and one signal on der X chromosome, one signal on Xq (der X chromosome), one centromeric signal on X chromosome (der X), and two signals on 1p/1q (normal chromosomes 1). The Olympus/Applied Imaging CYTOVISION (Genus) system was used to obtain the fluorescent and FISH images.
AJMA_33437_sm_Figure4.pdf505KFig. 4. Array CGH analysis with an average genomic resolution of 75 Kb showing: A: A terminal microdeletion of about 8.4 Mb into Xp22.31-pter region. B: Terminal duplication of the Yq11.22-qter region (∼10 Mb).
AJMA_33437_sm_Pedigree.pdf11KPedigree

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