Figure 2
From: De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis
aCGH and FISH analysis of chromosome 16 in our patient. (a) aCGH identified a duplication of chromosome region 16pter-p11.2 Log 2 ratio data for two dye-swap plots (patient/control) are presented according to their positions in the human genome. The black line indicates the moving average. The greenish shaded region indicates the duplication on chromosome region 16pter-p11.2. The blue horizontal line marks the location of the centromere. (b) Representative image of chromosome metaphase demonstrating hybridization of the subtelomeric probe 16pter (red) in the FISH analysis. The white arrow indicates the location of the additional chromosomal region 16pter-p11.2 translocated onto the telomeric region of chromosome 6p.