Art

J-GLOBAL ID：202002222352667040   Reference number：20A1690420

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation

X染色体不活性化の異なる比率を持つXq27.3q28欠失を有する2つの女性患者の臨床的および分子遺伝学的特性【JST・京大機械翻訳】

Author (12)： Katoh Kimiko (Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan) ,  Aiba Kaori (Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan) ,  Fukushi Daisuke (Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan) ,  Yoshimura Jun (Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan) ,  Suzuki Yasuyo (Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan) ,  Mitsui Jun (Department of Molecular Neurology, The University of Tokyo, Tokyo, Japan) ,  Morishita Shinichi (Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan) ,  Tuji Shoji (Department of Molecular Neurology, The University of Tokyo, Tokyo, Japan) ,  Yamada Kenichiro (Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan) ,  Wakamatsu Nobuaki (Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan) ,  Wakamatsu Nobuaki (Department of Neurology, Neurology and Stroke Center, Takamatsu Municipal Hospital, Takamatsu, Kagawa, Japan) ,  Wakamatsu Nobuaki (Department of Pathology and Host Defense, Faculty of Medicine, Kagawa University, Miki, Kagawa, Japan)
Material： Human Mutation
Volume： 41  Issue： 8  Page： 1447-1460  Publication year： 2020 
JST Material Number： W2601A  ISSN： 1059-7794  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： A heterozygous deletion at Xq2...

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Thesaurus term： heterojunction ,  topology ,  chromatin ,  *chromosome ,  embryogenesis ,  woman ,  intelligence disorder ,  *X Chromosome ,  gene expression ,  peripheral blood ,  molecular cytogenetics ,  domain structure ,  *X Chromosome Inactivation ,  Brain Development ,  molecular genetic phenomenon
Semi thesaurus term： 臨床的特徴 , 【Automatic Indexing@JST】

Author keywords (4)： intellectual disability ,  skewed XCI ,  X chromosome inactivation ,  Xq27.3q28 deletion

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Terms in the title (7)： X染色体不活性化 ,  比率 ,  欠失 ,  女性 ,  患者 ,  臨床 ,  分子遺伝学