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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis

Fig. 2

Levels of T9 mosaicism in somatic tissues. a. 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. b. Analysis of white blood cells with fluorescein labeled 9p (green) and rhodamine labeled 9q (red) FISH probes. c. Analysis of white blood cells with 9p and 9q FISH probes. Representative FISH results (B and C) in a single viewing field are shown for two cells as examples of disomy 9 and T9. White arrows indicate the position of FISH signals for Chr9

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