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Fig. 2 | Molecular Cytogenetics

Fig. 2

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

Fig. 2

G-banding karyotyping and OGM results for case 2. A Karyotype revealing a 46,XX,?ins(8;X)(q21.2;q22.2q22.1). B Circos plot from OGM indicating a translocation event involving chromosome 10 and X, and an inversion event occurred on chromosome 8. C OGM indicating a cryptic insertion of Xq23q23 into 10q26.12. D Upper panel: OGM identifying a paracentric inversion event occurred between chromosome 8q21.2 and q24.3. Lower panel: OGM CNV plot showing two deletions on chromosomes Xq22.2q23 and Xq23q24. (E) Schematic representation of the complex rearrangements involving chromosomes 8, 10 and X. Altogether, the complex chromosomal rearrangements were defined as 46,X,der(X)del(X)(q22.2q24),ins(10;X)(q26.12;q23q23),inv(8)(q21.2q24.3)

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