Figure 2
From: Investigating the role of X chromosome breakpoints in premature ovarian failure
Molecular cytogenetic analysis. Case 1. A. FISH analysis by means of wcp19 showing two normal chromosomes 19 and one derivative chromosome positive for wcp19 probe signal. B. FISH using RP11-87M18 (Xp21.1) and DXZ1 probes showing hybridization signals both on normal and derivative X chromosomes. Case 2. C. Dual colour FISH with wcpX (red) and wcp2 (green) probes showing a X;2 translocation. D. FISH using DXZ1 and RP11-150O15 probe, which is present on both derivative chromosomes and on the normal chromosome 2. Case 3. E. Dual colour FISH by means of DXZ1 (green) and DYZ1 (red) that identify the heterochromatic Y region on the derivative X chromosome. F. SNP analysis localized the breakpoint region in Xq26.2, identified as a monosomy trait from Xq26.2→Xqtel. Case 4. G. wcpX probe shows the presence of a translocation between chromosome X and chromosome 13. H. 13qtel probe displays hybridization signals on normal chromosome 13 and on derivative X chromosome.