Art

J-GLOBAL ID：201802224759649481   Reference number：18A0605822

A severely short-statured girl with 47,XX,+14/46,XX,upd(14) mat, mosaicism

47,XX,+14/46,XX,upd(14)mat,モザイクの重篤な低身長女児

Author (7)： USHIJIMA Kikumi (National Res. Inst. Child Health and Dev., Tokyo, JPN) ,  USHIJIMA Kikumi (Kurume Univ. School of Medicine, Fukuoka, JPN) ,  YATSUGA Syuichi (Kurume Univ. School of Medicine, Fukuoka, JPN) ,  MATSUMOTO Takako (Kurume Univ. School of Medicine, Fukuoka, JPN) ,  NAKAMURA Akie (National Res. Inst. Child Health and Dev., Tokyo, JPN) ,  FUKAMI Maki (National Res. Inst. Child Health and Dev., Tokyo, JPN) ,  KAGAMI Masayo (National Res. Inst. Child Health and Dev., Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 63  Issue： 3  Page： 377-381  Publication year： Mar. 2018 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *Trisomy ,...
Semi thesaurus term： *トリソミー14モザイク

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JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (16)：

• da Rocha ST, Edwards CA, Ito M, Ogata T, Ferguson-Smith AC. Genomic imprinting at the mammalian Dlk1-Dio3 domain. Trends Genet 2008;24:306-16.
• Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, 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;40:237-42.
• Kagami M, O’Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, et al. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet 2010;6:e1000992.
• Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Natural history of mosaic trisomy 14 syndrome. Am J Med Genet 1992;44:189-96.
• Hur YJ, Hwang T. Complete trisomy 14 mosaicism: first live-born case in Korea. Korean J Pediatr 2012;55:393-6.

Terms in the title (2)： モザイク ,  低身長