Figure 1 | Scientific Reports

Figure 1

From: Importance of embryo aneuploidy screening in preimplantation genetic diagnosis for monogenic diseases using the karyomap gene chip

Figure 1

Haplotyping and karyotyping of preimplantation embryo using Karyomap SNP Microarray. This figure shows haplotyping and karyotyping of preimplantation embryo sample reading using Karyomap SNP microarrays. (A) Displays the haplotype outcome of Embryo-1(E-1)to Embryo-14(E-14) from a couple who is the Spinal Muscular Atrophy(SMA) carrier. The proband was the affected son with SMA. By haplotyping with BlueFuse Multi software analysis, the following is the diagnostic results for blasocyst. The diagnosis of E-1,2,4,7,810,12,13 is unaffected(carrier), E-3 and E-9 is unaffected(normal), E-5 and E-6 is affected. E-11and E-14 is amplification failure with no diagnosis. (B) Demonstrates the molecular karyotype of Embryo-1 with normal diploid diagnostic reading. Normal AA, AB and BB alleles and a 0 reading for the smooth log R ratio is observed for chromosome 1to 22 and one copy for X and Y. (C) Presents the abnormal molecular karyotype of Embryo-9 with a monosomy reading of chromosome 14, from a blastocyst stage embryo. AA and BB alleles are observed without AB alleles represented. A significant shift in the smooth log R ratio is observed, consistent with the monosomy karyotype for chromosome 14.

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