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. 2020 Dec 14;140(5):775–790. doi: 10.1007/s00439-020-02242-3

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© The Author(s) 2020

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Fig. 1 — Chromosome analysis reveals complex translocations involving a total of six chromosomes. The karyotype of the patient was set as 46,X,t(X;21;19;4)(q26;q21;q13;q21)t(7;11)(p13;p15) after initial chromosome analysis (upper figure). Follow-up analysis with spectral karyotyping (SKY) was performed to visualize the chromosomal segments that had been rearranged, especially the chromosome 19 and 21 segments that were not distinguishable from the karyotype. White arrows indicate the different segments (lower figure)