A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
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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