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

Fig. 1.

Download original image
Fig. 1. Results of karyomapping and preimplantation genetic testing for aneuploidy (PGT-A) in case 2 with Charcot–Marie–Tooth disease type 1A. Karyomapping analysis included 2 Mb each of the upstream (5’) and downstream (3’) sides of the PMP22 gene for linkage analysis. (A) M1 is the mutant allele and M2 is the normal allele. Embryo 1 has mutant allele and embryo 2 and Embryo 3 have normal allele. (B) B allele chart of karyomapping in unaffected embryos. In Embryo 2, segment of chromosome 13 had AA and BB alleles but no AB alleles. A segmental monosomy13 was suggested in Embryo 2. (C) Result of PGT-A shows segmental monosomy on 13q14.3-q31 in embryo 2, and euploidy in Embryo 3. CNV, copy number variation.
Journal of Genetic Medicine 2022;19:7-13
© 2022 Korean Society of Medical Genetics and Genomics