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J-GLOBAL ID：201502217798446079   Reference number：15A0846042

Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

第14番染色体父親性ダイソミー症候群の出生前所見とエピジェネティック変異

Author (6)： WATANABE Takafumi (Dep. of Obstetrics and Gynecology, Fukushima Medical Univ. School of Medicine, Fukushima, JPN) ,  GO Hayato (Dep. of Pediatrics, Fukushima Medical Univ. School of Medicine, Fukushima, JPN) ,  KAGAMI Masayo (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  YASUDA Shun (Dep. of Obstetrics and Gynecology, Fukushima Medical Univ. School of Medicine, Fukushima, JPN) ,  NOMURA Yasuhisa (Dep. of Obstetrics and Gynecology, Fukushima Medical Univ. School of Medicine, Fukushima, JPN) ,  FUJIMORI Keiya (Dep. of Obstetrics and Gynecology, Fukushima Medical Univ. School of Medicine, Fukushima, JPN)
Material： Journal of Obstetrics and Gynaecology Research  (J Obstet Gynaecol Res)
Volume： 41  Issue： 7  Page： 1133-1136  Publication year： Jul. 2015 
JST Material Number： W1429A  ISSN： 1341-8076  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *chromosomal aberration ,...
Semi thesaurus term： *第14番染色体父親性ダイソミー症候群 ,...

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JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Gynecologic and obstetric diagnosis  (GS02000W)

Reference (12)：

• Mattes J, Whitehead B, Liehr T et al. Paternal uniparental isodisomy for chromosome 14 with mosaicism for a super-numerary marker chromosome 14. Am J. Med Genet A 2007; 143A: 2165-2171.
• Berend SA, Horwitz J, McCaskill C, Shaffer LG. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet 2000; 66: 1787-1793.
• Kagami M, Sekita Y, Nishimura G et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 2008; 40: 237-242.
• Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T. Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet 2012; 20: 928-932. doi:10.1038/ejhg.2012.26.
• Hoffmann K, Heller R. Uniparental disomies 7 and 14. Best Pract Res Clin Endocrinol Metab 2011; 25: 77-100.

Terms in the title (4)： 第14番染色体父親性ダイソミー症候群 ,  所見 ,  エピジェネティック ,  変異