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Fig. 5 | Journal of Translational Medicine

Fig. 5

From: Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes

Fig. 5

GTW-banded karyotypes of monosomy X and Xq duplication on patient 3. The third case had a mosaic karyotype with Monosomy X in 9 cells and an X chromosome with a duplication of the long arm 45,X[9]/46,X,dup(X)(q13q22.1) [41]. The G-banded X chromosomes in 9 pf 50 cells are shown for the 45,X cell line (top), and 4 cells of the second cell line with the duplicated chromosome regions indicated on the normal idiogram to the left (bottom). The normal X chromosome is illustrated for five metaphase cells to the left of the X chromosome with the long arm duplication to the right of it. The arrows are drawn to the Xq21.1 and Xq21.2 bands. [Illustration courtesy of James Malone, Supervisor, Akron Children’s Cytogenetic Laboratory].

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