title: Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome.
abstract: 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.
authors: Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine, Fukushima, Japan.
authors: Takafumi
authors: T
authors: Watanabe
authors: Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima, Japan.
authors: Hayato
authors: H
authors: Go
authors: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
authors: Masayo
authors: M
authors: Kagami
authors: Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine, Fukushima, Japan.
authors: Shun
authors: S
authors: Yasuda
authors: Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine, Fukushima, Japan.
authors: Yasuhisa
authors: Y
authors: Nomura
authors: Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine, Fukushima, Japan.
authors: Keiya
authors: K
authors: Fujimori
mesh_terms: D000328:Adult; D002585:Cesarean Section; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics / Q000378:metabolism; D020732:Cytogenetic Analysis; D019175:DNA Methylation; D021901:DNA, Intergenic; D044127:Epigenesis, Genetic; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D007752:Obstetric Labor, Premature / Q000209:etiology* / Q000517:prevention & control; D010922:Placenta Diseases / Q000209:etiology; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D047928:Premature Birth / Q000209:etiology; D062085:RNA, Long Noncoding / Q000378:metabolism*; D016216:Ultrasonography, Prenatal; D024182:Uniparental Disomy / Q000235:genetics / Q000503:physiopathology*; D000096803:Imprinting Disorders
chemical_list: D021901:DNA, Intergenic; C498907:MEG3 non-coding RNA, human; D062085:RNA, Long Noncoding
keywords: chromosome 14; epimutation; imprinting; paternal uniparental disomy; prenatal diagnosis