PMC9642548_01
Cytogenetic and cytogenomic analyses on amniotic fluid of Case 2. (A) GTG banding karyotype shows a complete T21; (B) SNP-array shows a complete T21. Log ratio >0 indicates a copy number gain for chromosome 21.
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F4
Cytogenetic and SNP-array analyses showed 46,XX,+21,der (21;21)(q10;q10) (Figure 4A) and a trisomy 21 (Figure 4B), respectively.
Cytogenetic and cytogenomic analyses on placenta and fetal tissues of Case 2. (A) GTG banding karyotype on placenta shows a mosaic T21; (B) SNP-array on two samples of placenta shows a mosaic T21. Log ratio >0 indicate a copy number gain for chromosome 21; (C) GTG banding karyotype on fetal skin shows a complete T21; (D) QF-PCR analysis on placenta. For each channel, the three lanes represent the different biopsies from the placenta.
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F5
Karyotype and SNP-array analyses revealed a placental mosaicism at about 60% (Figure 5A,B), while the SNP-array on DNA fetal skin showed a complete T21 (Figure 5C). The QF-PCR patterns on placental tissue were consistent with the fetus' disomy for 13, 18, trisomy for 21, and the presence of two X chromosome and absence of the SRY gene (Figure 5D). The chromosomes markers for T21 (21B and 21H for example, as shown in Figure 5D) denote the presence of two cell lines, i.e., one disomic and one trisomic cell line for T21.