PMC9325602_01
Normal female karyotype obtained after amniocentesis at 17 weeks and 1 d of pregnancy in Case 1.
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fig1
The amniocentesis (G-banding) results were 46,XX (15 cells) (Figure 1) (Table 1).
PMC9325602_02
PMC9325602_03
(a) Results of single-nucleotide polymorphism array analysis of the umbilical cord blood, main placenta (placenta 1), and succenturiate placenta (placenta 2) in Case 1: the B allele frequency indicates the frequency of B allele. The logR ratio indicates the copy number. No monosomy mosaicism or loss of heterozygosity was observed on the long arm of chromosome 5. (b) Proportion of single-nucleotide polymorphisms (AA, AB, and BB). There was no increase in the percentage of AA and BB compared to the control sample (peripheral blood of an adult woman with no previous medical history) analysed in the same panel. Chromosome 5 had similar polymorphism ratios compared to chromosome 1.
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fig2
There was no mosaicism or LOH in B allele frequency (Figures 2 and 3). These chromosomes had similar polymorphism ratios compared to chromosome 1 (Figures 2 and 3).
(a) Results of single-nucleotide polymorphism array analysis of the umbilical cord blood and placenta in Case 2: no monosomy mosaicism or loss of heterozygosity was observed on the long arm of chromosome 9 and chromosome 14. (b) Proportion of single-nucleotide polymorphisms (AA, AB, and BB) in Case 2. There was no increase in the percentage of AA and BB compared to that in the control sample (peripheral blood of an adult woman with no previous medical history) analysed in the same panel. Chromosomes 9 and 14 had similar polymorphism ratios compared to chromosome 1.
CRIOG2022-1763948.003.jpg
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fig3
There was no mosaicism or LOH in B allele frequency (Figures 2 and 3). These chromosomes had similar polymorphism ratios compared to chromosome 1 (Figures 2 and 3).
PMC9325602_04