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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Identification of complex and cryptic chromosomal rearrangements by optical genome mapping

Fig. 3

G-banding karyotyping and OGM results for case 3. A Karyotype revealing apparently balanced complex chromosomal rearrangement ascertained as 46,XX,t(1;14)(p31;q21),ins(16;5)(q21;q15q13.1),der(5)inv(5)(q12q13.1)ins(16;5)(q21;q15q13.1). B Circos plot from OGM indicating complex chromosomal rearrangements involving chromosomes 1, 5, 14, and 16. C OGM indicating a translocation event involving chromosomes 1 and 14. D OGM CNV plot showing a small deletion (0.7 Mb) on chromosome 5q14.1 (chr5:77,176,413–77,902,580). E OGM identifying complex chromosomal rearrangements involving chromosomes 5 and 16. F Ideograms of the derivative chromosomes are shown on the right and in different colors to illustrate the interchanges. Note that four of the five subsegments of chromosome 5q15q12.3 (light green, yellow, brown, black arrows) were rearranged and inserted into the long arm of chromosome 16q21, and a small deleted subsegment was not included in the insertion (pink arrow)

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