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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review

Fig. 1

a G-banding karyotype of the fetus at 350-band level and idiograms of G-banding patterns for normal human chromosome X and chromosome 9 at 550-band levels. (Left) Karyotype of the fetus revealed no apparent anormality by G-banding. (Right) Idiograms of G-banding patterns showing the rearranged 9p23p24.3 and Xq27.2q28 have similar light and dark bands, brackets indicate the bands rearranged between chromosome X and chromosome 9(cited from ISCN 2020). b NIPT result for Chr9. The Chr9 plot shows the mean copy number variation per 20 kb sequencing bin (blue line) versus each 20 kb sequencing bin. The upper dashed line indicates the expected position of the blue line for 100% T9, indicating a 13.32 Mb 9p23-p24.3 duplication staining (609414-13925238). c, d Molecular karyotype of the foetus showing chromosome X and chromosome 9. c Molecular karyotype by CNV-seq revealed the foetus had one copy of seq[GRCH37] Xq27.2q28(140379431-154926263). d Molecular karyotype by CNV-seq revealed the foetus had three copies of seq[GRCh37] 9p23p24.3(10001-14098518). e, f Metaphase FISH on the fetus. e Metaphase FISH on cultured amniocytes revealed that the fetus was a carrier of der (X) with two Xpter signals (green) and one Xqter signal (red); arrow indicates the der(X) with no Xqter signal. f FISH analysis revealed the fetus had three 9pter signals (green) and two 9qter signals (red) and with one 9pter translocated to the terminal of the non-chromosome 9, which could be inferred as chromosome X by e, f and DAPI; arrow indicates the der(X)

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