Figure 1
From: Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
Two illustrative cases with multiple abnormal cell lines. (a) Case 30 is a 20-year-old female with indications of moderate developmental delay, dysmorphic features and a known ring chromosome. (a1) The array plot for the pericentromeric region of chromosome 6 suggestive of two mosaic rings of different sizes as indicated by the green bars. (a2) Metaphase FISH analysis using probes for centromere 6 (green), 6q12 (RP11-586B7 in red), and 6p12.1 (RP11-1055O15 in red) confirmed the presence of two rings, each of different sizes. Interphase FISH shows the presence of multiple cell lines containing none, one or two ring 6 chromosomes. (b) Case 48 is a 10-year-old male with epilepsy. (b1) CMA shows two mosaic deletions of different sizes in the short arm of chromosome 17 (circle and square). (b2) Partial karyotype of chromosome 17 from case 48 showing a deletion in the short arm of chromosome 17 indicated by the arrow. Chromosome analysis indicated this deletion is present in 5 out of 30 metaphases (18%) analyzed. (b3 and b4) FISH analysis using multiple probes – subtelomere 17p probes cohybridized together (overlapping red and green), LIS1 (red), 17 centromere (aqua), and 17q21.1 control (green) – confirmed cell lines with two different deletions. The circled area on the plot shows a smaller deletion (17p13.3p13.3) present in all cells corresponding to b3. The deleted 17 on the left of the figure shows the 2 control probes as well as a red signal indicating that the LIS1 gene is still intact. The boxed area in the array plot shows a larger deletion (17p13.3p13.1) corresponding to b4. The chromosome 17 at the bottom of Figure 1b4 shows a deletion of the LIS1 gene as well as the subtelomere, with signals from only the 17q21 control and centromere probes.
