Figure 4
Figure 4. Partial karyotypes of patient 12 showing variable CNAs in different subclones for 1q21 in clones with deletion 17p. The direct loss of 17p occurred in the stemline by a whole-arm translocation of JT1q12. FISH probes on chromosome 1 are 1q12 (red) and 1q21 (green) and on chromosome 17 are TP53 (green) and ERB2 (red). SKY classified colors for 1q (yellow) and 17 (blue) are shown. (A) The stemline clone with chromosomes 1 (left) and 17 (right) showing JT1q12 replacing 17p (left bracket). This same pair of 17s was rehybridized 2 additional times with both SKY (middle dashed bracket) and FISH probes for TP53 and ERB2 (right dashed bracket). In this patient, 2 additional related subclones with variable CNAs for 1q21 were also identified. In both subclones, the JT1q12 on 17p has been lost (translocated off), leaving only the deleted 17p. In one subclone (panel B), the 1q21 CN remained at 3 due to the increase in CN of 1q21 in the normal chromosome 1, whereas in a second subclone (panel C), a CN of 2 was found for 1q21.

Partial karyotypes of patient 12 showing variable CNAs in different subclones for 1q21 in clones with deletion 17p. The direct loss of 17p occurred in the stemline by a whole-arm translocation of JT1q12. FISH probes on chromosome 1 are 1q12 (red) and 1q21 (green) and on chromosome 17 are TP53 (green) and ERB2 (red). SKY classified colors for 1q (yellow) and 17 (blue) are shown. (A) The stemline clone with chromosomes 1 (left) and 17 (right) showing JT1q12 replacing 17p (left bracket). This same pair of 17s was rehybridized 2 additional times with both SKY (middle dashed bracket) and FISH probes for TP53 and ERB2 (right dashed bracket). In this patient, 2 additional related subclones with variable CNAs for 1q21 were also identified. In both subclones, the JT1q12 on 17p has been lost (translocated off), leaving only the deleted 17p. In one subclone (panel B), the 1q21 CN remained at 3 due to the increase in CN of 1q21 in the normal chromosome 1, whereas in a second subclone (panel C), a CN of 2 was found for 1q21.

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