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. 2021 Jul 7;108(8):1423–1435. doi: 10.1016/j.ajhg.2021.06.001

Figure 2.

Figure 2

Example of a balanced translocation

Illustration of the recurrent translocation t(11;14)(q13;q32) in sample 44.

(A) Karyogram showing t(11;14)(q13;q32).

(B) Example of nucleus in which interphase FISH with the IGH-CCND1 dual color dual fusion probe shows a green (IGH), a red (CCND1), and two IGH-CCND1 fusion signals.

(C) Circos plot showing chromosomes 11 and 14. The purple line in the middle of the circos plot visualizes the translocation.

(D) Genome map view showing the translocation t(11;14)(q13;q32). Upper green bar, reference genome map of chromosome 11; blue bar, samples genome map; lower green bar, reference genome map of chromosome 14; pink bars, CCND1 and IGH.

(E) Aberrant molecules supporting the translocation.