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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Identification of a familial complex chromosomal rearrangement by optical genome mapping

Fig. 2

Schematic diagram of the breakages and fusions of chromosome 6, 12 and 15. A Chromosome 6 breaks into three segments: 6pter-6q27 (0M–166.031M), 6q27 (166.031M–168.612 M), 6q27-6qter (168.612M–171.016M). B Chromosome 12 breaks into two segments: 12pter-12q24.33 (0M–131.822M), 12q24.33-12qter (131.822M–133.840M). C Chromosome 15 breaks into two segments: 15pter-15q26.1 (0M–92.793M), 15q26.1-15qter (92.793M–102.516M). D The derivative chromosome 6 has resulted from a translocation of the chromosome 15 segment (15q26.1-15qter) to the long arm of chromosome 6 at band 6q27. E The derivative chromosome 12 has resulted from a reverse insertion of the segment 6q27 onto 12q24.33, and a translocation of segment 6q27-6qter onto chromosome 12 at 6q27. The arrows indicate the directions of the segments. F The derivative chromosome 15 has resulted from a translocation of the segment of chromosome 12 (12q24.33-12qter) to chromosome 15 at 15q26.1

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