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Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection

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Academic year: 2020

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Fig. 1 Case 1. 1karyotyping of 550 bands showed no obvious structural abnormality; 146,XY.ngs[GRCh37/hg19] 9p24.3-9p24.1(10,291-8,680,890×1),13q33.1-13q34(103,046,327-114,785,444×3) (indicated by red circle); 1a: PGS profile of array CGH was normal; 1b: Th
Fig. 2 Case 2. 2a: PGS profile by array CGH was normal; 2b: PGS by NGS was 46,XY.ngs 4q34.3-4q35.2(179,673,982-191,016,503×3), 6p25.3-6p22.3(146,672-17,829,693×1) (indicated by red circle); 2c, 2d: The array CGH result of the second abortion sample was arr
Table 1 Two Cases with inconsistent results between NGS and array CGH, and carrier validation by FISH

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