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Table 1 Two Cases with inconsistent results between NGS and array CGH, and carrier validation by FISH

From: 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

Cases

RIF times

RM times

embryo array CGH PGS result

embryo NGS result

carrier FISH

1

2

5

normal

ngs9p24.3-9p24.1(10,291-8,680,890×1)

ish t(9;13)(p24.1;q33.1)

    

13q33.1-13q34(103,046,327-114,785,444×3)

(9pter-,9qter+;9pter+,RB1+)

2

2

4

normal

ngs4q34.3-4q35.2(179,673,982-191,016,503×3)

ish t(4;6) (q34.3;p22.3)

    

6p25.3-6p22.3 (146,672-17,829,693×1)

(6pter+,cep4+;6pter-,4qter+)

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Molecular Cytogenetics

ISSN: 1755-8166