Figure 3.
Figure 3. M-FISH, barcode FISH, and array profile patient 2. (A-B) M-FISH identified the additional marker and ring chromosomes. Both metaphases show the same aberrations, but in panel B, the ring chromosomes were identified as composed of material from chromosomes 13 and 15. Array profile revealed chromothripsis of the long arm of chromosome 3 and from the short arm of chromosome 9 (C-D). In this patient, the ring chromosome material 13 and 15 showed no chromothriptic pattern in array analysis; however, due to the low number of metaphases showing ring chromosomes (2 of 14), array-CGH may not be able to detect a chromothriptic event. (E) XCyte bar coding of chromosome 3 showed the banding pattern of the normal chromosome 3 and additionally the p-arm banding pattern on the derivative translocation chromosome t(3;9) and long arm banding pattern on the derivative translocation chromosome t(3;11). The centromeric banding pattern of chromosome 3 is not detectable according to the chromothriptic array profile of chromosome 3. (F) XCyte 9 barcode. A normal control hybridization of XCyte barcode 9 is presented on the left side. In the patient, the XCyte barcode is distributed on 5 translocation chromosomes. Chromosomal material involved in chromothriptic region 9p could be localized on the translocation chromosomes t(3;9), t(9;15), and the complex rearranged translocation chromosome t(12;19;9;15). Note, unstained translocation partners are indicated in white.

M-FISH, barcode FISH, and array profile patient 2. (A-B) M-FISH identified the additional marker and ring chromosomes. Both metaphases show the same aberrations, but in panel B, the ring chromosomes were identified as composed of material from chromosomes 13 and 15. Array profile revealed chromothripsis of the long arm of chromosome 3 and from the short arm of chromosome 9 (C-D). In this patient, the ring chromosome material 13 and 15 showed no chromothriptic pattern in array analysis; however, due to the low number of metaphases showing ring chromosomes (2 of 14), array-CGH may not be able to detect a chromothriptic event. (E) XCyte bar coding of chromosome 3 showed the banding pattern of the normal chromosome 3 and additionally the p-arm banding pattern on the derivative translocation chromosome t(3;9) and long arm banding pattern on the derivative translocation chromosome t(3;11). The centromeric banding pattern of chromosome 3 is not detectable according to the chromothriptic array profile of chromosome 3. (F) XCyte 9 barcode. A normal control hybridization of XCyte barcode 9 is presented on the left side. In the patient, the XCyte barcode is distributed on 5 translocation chromosomes. Chromosomal material involved in chromothriptic region 9p could be localized on the translocation chromosomes t(3;9), t(9;15), and the complex rearranged translocation chromosome t(12;19;9;15). Note, unstained translocation partners are indicated in white.

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