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. Author manuscript; available in PMC: 2019 Feb 1.
Published in final edited form as: Fertil Steril. 2018 Feb;109(2):201–212. doi: 10.1016/j.fertnstert.2018.01.005

Figure 3.

Figure 3

Screenshot from the Affymetrix Chromosome Analysis Suite Software (Version 3.1) showing mosaic trisomy 21. The Log2 Ratio of chromosome 21 is clearly shifted upwards compared to chromosome 15 (shown for comparison). The smooth signal copy number panel indicates the exact copy number of each probe. This panel is helpful in identifying mosaicism which is evident when the smooth signal for multiple consecutive probes lies between an integer, e.g. An integer between 2 and 3 indicates trisomy mosaicism. In this example, the median copy number state across chromosome 21 is 2.62, indicating the level of trisomy 21 mosaicism to be around 62%. The allele difference panel indicates the genotype for each SNP probe. For normal copy number of 2, there are only 3 possible SNP combinations, AA, AB and BB (see Figure1) which are plotted on the allele difference graph. When there is mosaicism, additional genotypes will be visible representing those present in both normal and abnormal cell lines.