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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: RETRACTED ARTICLE: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

Fig. 1

PGT-M strategy for Peutz–Jeghers syndrome. a Workflow of PGT-M by karyomapping. b Pedigree diagram and linkage analysis identified for the disease-carrying allele. M Male, unaffected; F Female, affected; R Reference (proband), female’s brother; E Embryo. We sequenced the amplified genomes from each embryo, couple, and proband. This is the pedigree diagram of case 4 in the second PGT-M cycle. The SNPs within a range of 2 Mb upstream or downstream flanking the STK11 gene are shown on the left. The heterozygous SNPs (AB) for the male and homozygous SNPs (AA or BB) for the female and female brothers were applied in the linkage analyses. Yellow bars indicate the pathogenic allele in the female’s brother inherited from the female to embryos E3, E4, and E7. c Results of CNV detection of embryos. Top left: CNVs of normal embryos E1, E2, E5, and E6 by karyomapping microarray. Top right: Abnormal E3 embryos with monosomy of the 22nd chromosome. Lower left: Abnormal E4 embryos with deletion of the 10th chromosome. Lower right: Abnormal E7 embryos with deletion of the 9th chromosome

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