PMC4696251_01
Case 1. 1a: PGS profile of array CGH was normal; 1b: The MLPA result of the fifth abortion sample was 9p+,13q-; 1c: The NGS result was 46,XY.ngs[GRCh37/hg19] 9p24.3-9p24.1(10,291-8,680,890x1),13q33.1-13q34(103,046,327-114,785,444x3) (indicated by red circle); 1d: The G banding karyotyping of 550 bands showed no obvious structural abnormality; 1e: FISH showed reciprocal translocation in the male chromosome. Tel 9p: green; Tel 9q: orange; LSI 13 (RB1): orange
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PMC4696251_01_13039_2015_207_Fig1_HTML.jpg
Fig1
The patient received transfer of normal embryo as indicated by array CGH PGS (Fig. 1a). The MLPA result showed that the 9p probe was duplicated, and the 13q probe was deleted in the fifth abortion sample (Fig. 1b). The DNA sample for array CGH assay was reanalyzed by NGS, which revealed 46,XY.ngs [GRCh37/hg19] 9p24.3-9p24.1(10,291-8,680,890x1), 13q33.1-13q34(103,046,327-114,785,444x3) (Fig. 1c). G banding karyotyping of 550 bands also showed no obvious structural abnormality (Fig. 1d). FISH analysis with Tel 9p, Tel 9q and LSI 13 probes confirmed the existence of the reciprocal translocation in the male chromosome as 46,XY,t(9;13)(p24.1;q33.1). (Figure 1e).
PMC4696251_02
Case 2. 2a: PGS profile by array CGH was normal; 2b: PGS by NGS was 46,XY.ngs 4q34.3-4q35.2(179,673,982-191,016,503x3), 6p25.3-6p22.3 (146,672-17,829,693x1) (indicated by red circle); 2c, 2d: The array CGH result of the second abortion sample was arr 4q34.3-q35.2 (179,554,876-190,864,789) x 3, 6p25.3-p22.3(347,038-17,543,199) x 1; 2e: The G banding karyotyping of 550 bands showed 46,XX,t(4; 6)(q34.3;p22.3); 2f: FISH showed reciprocal translocation of female chromosome. Tel 4q: orange; CEP4: Aqua; Tel 6p: green
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PMC4696251_02_13039_2015_207_Fig2_HTML.jpg
Fig2
The array CGH PGS results showed normal (Fig. 2a) but the NGS result of the same sample was 46,XY.ngs 4q34.3-4q35.2(179,673,982-191,016,503x3), 6p25.3-6p22.3 (146,672-17,829,693x1), (Fig. 2b). To clarify the discrepancy, result of array CGH for the second abortion product was found to be 46,XY.arr 4q34.3-q35.2 (179,554,876-190,864,789) x 3, 6p25.3-p22.3(347,038-17,543,199) x 1 (Fig. 2c,d). Further G banding karyotyping of 550 bands showed 46,XX,t(4;6)(q34.3;p22.3) of the female (Fig. 2e). Tel 4q, CEP4 and Tel 6p three FISH probes further verify the existence of the reciprocal translocation of female chromosome (Fig. 2f) (Table 1).