Figure 2.

Family pedigree, aCGH data and FISH results. Panel I is presenting the family pedigree and aCGH data analysis results. A. The pedigree indicates presence of two miscarriages, six healthy family members (two girls and four boys) and one affected boy B. aCGH data showing the largest deletion found on chromosome 12q telomere. The deletion is nearly 9.2 Mb in size and starts from bases of 123097890 and extends to the near end of the chromosome 12 and therefore, is considered as a novel telomeric deletion. Similar deletions limited to a few patients were previously reported but the breakpoints and sizes are different. Panel II is depicting three different cells based on interphase FISH results. A. Interphase FISH showing the wild type cell with four signals (two telomeric red and two centromeric green signals). B. A cell with hemizygosity indicated by three signals based on the FISH experiments. C. The FISH result depicting only two green signals in a cell indicating nullisomy for chromosome 12q24.31-q24.33.