Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2. Results of karyomapping and preimplantation genetic testing for aneuploidy (PGT-A) in case 3 with Charcot–Marie–Tooth disease type 2A. Karyomapping analysis included 2 Mb each of the upstream (5’) and downstream (3’) sides of the MFN2 gene for linkage analysis. (A) M1 is the mutant allele and M2 is the normal allele. Embryo 1-3 have normal alleles and Embryo 4 has a mutant allele. (B) B allele chart of karyomapping in unaffected embryos. In Embryo 3, chromosome 8 had AA and BB alleles but no AB alleles. A monosomy 8 was suggested in Embryo 3. (C) Result of PGT-A shows monosomy 8 in embryo 3 and euploidy in Embryo 1 and 2. CNV, copy number variation.
Journal of Genetic Medicine 2022;19:7-13
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