The phenotypes associated with paternal uniparental disomy for chromosome 14 (UPD(14)pat) are clinically distinctive and caused by genetic alterations at the 14q32.2 imprinted region. Here we describe prenatal and neonatal findings in a case of epimutation associated with UPD(14)pat-like phenotype. A 25-year-old Japanese woman was referred to hospital at 32 weeks of gestation for management of threatened premature delivery. Fetal ultrasound and magnetic resonance imaging showed a narrow thorax and polyhydramnios. At 35 weeks of gestation, emergency cesarean section was performed and placentomegaly was identified. Physical examination of the neonate indicated a small narrow thorax, diastasis recti, and dysmorphic facial features that included hirsute forehead, broad flat nasal bridge, micrognathia, small ears, and a long protruding philtrum. Genetic analysis identified epimutation at the intergenic differentially methylated region (IG-DMR) and at MEG3-DMR.
Keywords: chromosome 14; epimutation; imprinting; paternal uniparental disomy; prenatal diagnosis.
© 2015 The Authors. Journal of Obstetrics and Gynaecology Research © 2015 Japan Society of Obstetrics and Gynecology.