PMC3977098_01
FISH analysis of the proband's cells. (a) The X chromosome centromere probe (Spectrum Green; DXZ1) on an inverted grey scale DAPI-stained metaphase spread shows hybridisation to both the normal X homologue and the marker chromosome. (b) X chromosome centromere probe (Spectrum Green; DXZ1) with a chromosome 18 centromere probe (Aqua; D18Z1) as a control. 1-2 X centromere signals per interphase nucleus can be seen.
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fig1
FISH studies using the Vysis Xcen (DXZ1), Ycen (DYZ3), and Yp11.3 (SRY) probes on metaphase spreads were also carried out (Figure 1).
Schematic of the chromosome X region comprising the marker X chromosome (a) shows an ideogram of chromosome X, together with the region of the marker chromosome. (b) shows the OMIM and Refseq genes that lie on the marker chromosome. These graphics were taken from the UCSC genome browser (http://genome.ucsc.edu/).
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fig2
This result indicated the presence of two genotypes: one with a single X chromosome complement, with no Y chromosome, and another of a single X chromosome complement with a 16.6 Mb duplication of X chromosome material from Xq11.1q21.1 (Figure 2), again with no Y chromosome.