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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects

Fig. 3

SNP-based Mendelian inheritance error (MIE) analysis for the fetus-parent trios and FISH image. a, b SNP genotype comparison showed that some SNP genotype calls in fetus 1 (a) and fetus 2 (b) did not match their mothers, indicating that they originated from the fathers. c FISH using a probe for the MYC (red fluorescence; green fluorescence CEN8 probe for the alpha satellite centromeric region of chromosome 8 as a control) located at 8q24 was performed on a cell suspension from cultured cord blood from fetus 2. The analysis showed a normal MYC gene copy number in both metaphase and interphase cells, indicating a nonduplicated 8q24 region

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