Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report

Figure 1 Results of quantitative fluorescent polymerase chain reaction. The peak area ratio of AMXY (Xp22.2/Yp11.2) was 0.569. The peak area ratio of TAF9b (3p24.2/Xq21.1) was 2.15. The peak height ratios of DXYS218 (Xq22.33/Yp11.32) and DXYS267 (Xq21.31/Yp11.31) were both 1.0. STR markers: C1: AMXY (Xp22.2/Yp11.2); C2: DXS1187 (Xq26.2); C3: DXS8377 (Xq28); C4: SRY (Yp11.2); C5: DXS6809 (Xq21.33); C6: DXS981 (Xq13.1); C7: TAF9b (3p24.2/Xq21.1); C8: DXYS218 (Xp22.33/Yp11.32); C9: DXYS267 (Xq21.31/Yp11.31); C10: DYS448 (Yq11.2).

Figure 2 Results of karyotype analysis and copy number variation sequencing. A: Karyotype analysis revealed 46,XY in this case; B: A 500 kb duplication at Yp11.2-Yp11.2 (chrY:6610001_7110000) and a 250 kb duplication at Yp11.2-Yp11.2 (chrY:7110001_7360000) were found in CNV-Seq detection. CNV-Seq: Copy number variation sequencing.