PMC5964436_01
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.
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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)).
Results of the SNP microarray analysis: (a) karyotype view of the 14q11.2 duplication and (b) karyotype view of the Xq28 duplication.
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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).
Pachytene scheme of fetal chromosomal abnormality.
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Therefore, we concluded that the sSMC might have originated from chromosome disjunction at a ratio of three to one (Figure 3).