case_images: PMC5964436_01
case_images: Results of fetal and maternal karyotype: (a) fetal karyotype determined from amniotic fluid cells at 31 weeks of gestation and (b) maternal karyotype detected from lymphocytes of maternal blood.
case_images: CRIOG2018-2875241.001.jpg
case_images: PMC5964436_01_CRIOG2018-2875241.001.jpg
case_images: fig1
case_images: The fetal karyotype was identified as 47,XY,+mar by amniocentesis at 31 weeks of gestation (Figure 1(a)). The results of the maternal and paternal karyotypes were 46,X,t(X;14)(q28;q11) and 46,XY, respectively (Figure 1(b)).
case_images: Results of the SNP microarray analysis: (a) karyotype view of the 14q11.2 duplication and (b) karyotype view of the Xq28 duplication.
case_images: CRIOG2018-2875241.002.jpg
case_images: PMC5964436_01_CRIOG2018-2875241.002.jpg
case_images: fig2
case_images: The SNP microarray revealed a 3.55 MB proximal duplication of 14q11.2 and a 2.10 MB terminal duplication of Xq28 as well as a pseudoautosomal region (Figure 2).
case_images: Pachytene scheme of fetal chromosomal abnormality.
case_images: CRIOG2018-2875241.003.jpg
case_images: PMC5964436_01_CRIOG2018-2875241.003.jpg
case_images: fig3
case_images: Therefore, we concluded that the sSMC might have originated from chromosome disjunction at a ratio of three to one (Figure 3).