WEKO3
アイテム
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手足の異常を伴わない46,XY,dup(13)(q31.2-qter)の1例
https://doi.org/10.15069/00000593
https://doi.org/10.15069/0000059326affa4a-e7ac-4e84-9aae-4e1593322e32
名前 / ファイル | ライセンス | アクション |
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KJ00004191073 (457.1 kB)
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Item type | 紀要論文(ELS) / Departmental Bulletin Paper(1) | |||||||||
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公開日 | 2005-03-25 | |||||||||
タイトル | ||||||||||
タイトル | 手足の異常を伴わない46,XY,dup(13)(q31.2-qter)の1例 | |||||||||
タイトル | ||||||||||
言語 | en | |||||||||
タイトル | A dup(13)(q31.2-qter)without abnormalities of hands or feet | |||||||||
言語 | ||||||||||
言語 | eng | |||||||||
キーワード | ||||||||||
主題Scheme | Other | |||||||||
主題 | 13番染色体長腕部分トリソミー | |||||||||
キーワード | ||||||||||
主題Scheme | Other | |||||||||
主題 | 多指趾 | |||||||||
キーワード | ||||||||||
主題Scheme | Other | |||||||||
主題 | 危険領域 | |||||||||
キーワード | ||||||||||
言語 | en | |||||||||
主題Scheme | Other | |||||||||
主題 | chromosome 13 | |||||||||
キーワード | ||||||||||
言語 | en | |||||||||
主題Scheme | Other | |||||||||
主題 | partial trisomy 13q | |||||||||
キーワード | ||||||||||
言語 | en | |||||||||
主題Scheme | Other | |||||||||
主題 | polydactyly | |||||||||
キーワード | ||||||||||
言語 | en | |||||||||
主題Scheme | Other | |||||||||
主題 | critical region | |||||||||
資源タイプ | ||||||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||
資源タイプ | departmental bulletin paper | |||||||||
ID登録 | ||||||||||
ID登録 | 10.15069/00000593 | |||||||||
ID登録タイプ | JaLC | |||||||||
ページ属性 | ||||||||||
内容記述タイプ | Other | |||||||||
内容記述 | P(論文) | |||||||||
記事種別(日) | ||||||||||
値 | 保健科学部 | |||||||||
記事種別(英) | ||||||||||
言語 | en | |||||||||
値 | School of Health Science | |||||||||
著者名(日) |
園田, 徹
× 園田, 徹
WEKO
811
× 小泉, 博彦× 久保, 尚美× 高木, 純一× 原田, 直樹× 松本, 直通 |
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著者名よみ |
ソノダ, トオル
× ソノダ, トオル× コイズミ, ヒロヒコ× クボ, ナオミ× タカギ, ジュンイチ× ハラダ, ナオキ× マツモト, ナオミチ |
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著者名(英) |
SONODA, Tohru
× SONODA, Tohru× KOIZUMI, Hirohiko× KUBO, Naomi× TAKAGI, Junichi× HARADA, Naoki× MATSUMOTO, Naomichi |
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著者所属(日) | ||||||||||
値 | 九州保健福祉大学保健科学部作業療法学科 | |||||||||
著者所属(日) | ||||||||||
値 | 宮崎大学医学部小児科 | |||||||||
著者所属(日) | ||||||||||
値 | 宮崎大学医学部小児科 | |||||||||
著者所属(日) | ||||||||||
値 | 宮崎大学医学部小児科 | |||||||||
著者所属(日) | ||||||||||
値 | 九州メディカルサイエンス長崎ラボラトリー | |||||||||
著者所属(日) | ||||||||||
値 | 横浜市立大学大学院医学研究科環境分子医科学分野 | |||||||||
著者所属(英) | ||||||||||
言語 | en | |||||||||
値 | Department of Occupational therapy, School of Health and Science, Kyushu University of Health and Welfare | |||||||||
著者所属(英) | ||||||||||
言語 | en | |||||||||
値 | Department of Pediatrics, Miyazaki Medical College, University of Miyazaki | |||||||||
著者所属(英) | ||||||||||
言語 | en | |||||||||
値 | Department of Pediatrics, Miyazaki Medical College, University of Miyazaki | |||||||||
著者所属(英) | ||||||||||
言語 | en | |||||||||
値 | Department of Pediatrics, Miyazaki Medical College, University of Miyazaki | |||||||||
著者所属(英) | ||||||||||
言語 | en | |||||||||
値 | Kyushu Medical Science Nagasaki Laboratory | |||||||||
著者所属(英) | ||||||||||
言語 | en | |||||||||
値 | Department of Human Genetics, Yokohama City University Graduate School of Medicine | |||||||||
抄録(日) | ||||||||||
内容記述タイプ | Other | |||||||||
内容記述 | 5pter→p15.33の部分欠失と13q31.2→qterの部分重複を併せ持つ症例を報告する。症例は、健康で血縁関係のない両親の第1子として生まれた男児である。在胎41週のときに体重2,015g、身長42.2cm、頭囲32.0cmで出生した。小下顎、上向き鼻孔、耳介低位を伴い、口蓋裂、仙骨部陥凹、右停留精巣、襟巻き状陰嚢、両側単一手掌横線、重度の肺動脈狭窄を伴うファロー四徴を有していた。多指や指の重なり、足の揺り椅子状変形はなかった。末梢血リンパ球を用いたGバンドによる染色体検査、SKY法、FISH法により患児の染色体核は46, XY, der(5)t(5;13)(p15.33;q31.2)と決定した。母親の染色体核型は正常であったが、父親については検査ができていない。この症例の重要性は13トリソミー症候群の危険領域、特に多指趾について、示唆することである。 | |||||||||
抄録(英) | ||||||||||
内容記述タイプ | Other | |||||||||
内容記述 | We present a patient with a deletion of portion 5pter→p15.33 and a duplicaiton of portion 13q31.2→qter. The male infant proband, the first child of healthy and unrelated parents, was born after a 41-week gestation. The proband had a birth weight of 2,015 g, a length of 42.2 cm and a head circumference of 32.0 cm. He had micrognathis, anteverted nostrils, low-set ears, cleft palate, sacral dimple, right retentio testis, shawl scrotum, and tetralogy of Fallot with severe pulmonary stenosis. There were no overlapping fingers, polydactylia or rocker-bottom feet. The maternal karyotype was normal. The paternal karyotype was not available. His karyotype was revealed as 46, XY, der(5)t(5;13)(p15.33;q31.2) by G-banded karyotype, SKY method and FISH analysis. The importance of this case suggests a critical region of trisomy 13 syndrome, especially of polydactyly. | |||||||||
雑誌書誌ID | ||||||||||
収録物識別子タイプ | NCID | |||||||||
収録物識別子 | AA11490417 | |||||||||
書誌情報 |
九州保健福祉大学研究紀要 en : Journal of Kyushu University of Health and Welfare 巻 6, p. 189-192, 発行日 2005-03-25 |