Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

Figure 2

Multiplex-FISH (results were not shown) revealed a chromosome 4 origin of the additional material present on the derivative chromosome 5 (marked with an arrowhead throughout the figure). (a) Three-color FISH using a whole chromosome painting (wcp) probe for chromosome 5 (wcp 5, blue) with a partial chromosome painting (pcp) probe for the long (pcp 4q, green) and the short arm of chromosome 4 (pcp 4p, yellow) highlighting the origin of the additional material on derivative chromosome 5 as 4q derived. (b) A subtelomeric probe for 5pter (st 5pter, green) together with a locus-specific probe for CdCS (red) and a wcp 5 (blue), and the inverted DAPI-banding pattern characterized the breakpoint in chromosome 5 as 5p15.1 and in chromosome 4 as 4q31.3.