Fig. 1

The G-banding and FISH analysis of the rearranged and normal X chromosome. The G-band pattern of the normal and rearranged X chromosome showing multiple appearance from different metaphases of the rearranged X chromosome depending on the state of condensation; the black arrows indicating the localization of the second centromeres of the rearranged X (a), cohybridization of X centromere (aqua) and subtel Xq probes (red-green) showing the two centromeres of derivative X chromosome both extremities painted with Xq subtelomere specific probe as well as the normal pattern of the homologue X (b); chromosome paint probe for the short arm (red) and the long arm (green) showing the derivative X composed only from Xq arm (c); SHOX region could be identified only on normal X chromosome (d); The wild-type and rearranged X chromosome ideograms with arrows showing the position of the used FISH probes: subtelomere Xq (yellow), X centromere (green), XIST (red); colored ideogram of the rearranged X indicating the sequential order of bands suggested by G-band and FISH analysis (e); duplicated XIST probe in red, and the centromeric marker in green (f)