Fig. 1: Preimplantation genetic testing for aneuploidies and structural rearrangements (PGT-A and PGT-SR) results of biopsied embryos in Family 1. | npj Genomic Medicine

Fig. 1: Preimplantation genetic testing for aneuploidies and structural rearrangements (PGT-A and PGT-SR) results of biopsied embryos in Family 1.

From: Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing

Fig. 1

a Comprehensive Analysis of PGT-A and PGT-SR Results of 13 Embryos. Among the 13 embryos examined, 3 were found to be euploid without translocation (E08, E11, E12), 1 embryo exhibited euploid with a balanced translocation (E10), and 1 embryo showed no translocation but displayed mosaicism. The remaining embryos exhibited abnormal copy number variations (CNVs). D discarded embryos; F, frozen embryos; NA, not available. b Scatter diagrams illustrating CNVs detected in the 13 embryos by low-coverage whole genome sequencing. c Results of linkage analyses (partial SNP sites excerpted) of the blastocyst-stage embryos capable of transplantation. Twenty SNP markers linked to the breakpoints were selected to identify the balanced haplotype and the normal haplotype in each embryo. Blue bars indicate the maternal normal haplotype, red bars indicate the paternal balanced haplotype, and green bars indicate the paternal normal haplotype. ID, reference SNP cluster ID; Chr., chromosome number; Position, genomic location.

Back to article page