Figure 4

Karyotype, array-CGH analysis, FISH analysis. A) Cut-out of chromosomes 2 from two metaphases. The der(2) are highlighted by the arrows. B) Array-CGH profile of patient’s chromosome 2 showing the 2p distal duplication (upper panel in the enlargement) and the concurrent 2q distal deletion (lower panel in the enlargement). The experiment was performed by using a 180 K platform (180 K SurePrint G3 Human Kit, Agilent Technologies, Santa Clara, CA) as reported elsewhere[8]. C) FISH analysis with subtelomeric chromosome 2 specific probes (VIJyRM2052 in green, 2p; D2S447, in red, 2q; (Vysis TelVysion, Abbott Molecular, Abbott Park, IL) shows green signals at both extremities of the rearranged chromosome 2 (yellow arrow), flanked by its normal homolog. D) The protein-coding genes included in the duplication (upper panel) and the deletion (lower panel) are reported, according to UCSC Genome Browser (http://genome-euro.ucsc.edu/).