Fig. 2 | Scientific Reports

Fig. 2

From: Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT)

Fig. 2

Results of genetic tests in P4, P5, P6 and P7. A. The G-band karyotype of the P4 fetus was normal. B and C The CMA results of the foetus indicated maternal loss of heterozygosity in the 11q24.3q25 region: arr[GRCh37] 11q24.3q25(128375224_134930689)x2 hmz, and P4 was normal. D CMA result of P5 fetus indicating mosaic trisomy 7: arr(7)×2–3. E and G. CMA plot of P6 foetus showing mosaic duplication of chromosome 7: arr(7)×2–3. The UPDtool indicates that UPD7 is excluded, as the F CMA plot of P6 was normal. H NIPT plot of P7: seq[GRCh37] dup(14)(q21.1q32.33). I and J CMA plot of P7 fetus: arr[GRCh37] 14q11.2q13.3 (20520197_37350812)x2 hmz and 14q24.2q32.33(70758466_ 104240618)x2 hmz.

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