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染色体22q11欠失症の臨床
http://hdl.handle.net/10470/25870
http://hdl.handle.net/10470/258707a6cc65b-af38-4c77-99c8-90ed93817e09
名前 / ファイル | ライセンス | アクション |
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KJ00006020030.pdf (1.0 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2010-08-10 | |||||
タイトル | ||||||
タイトル | 染色体22q11欠失症の臨床 | |||||
言語 | ||||||
言語 | jpn | |||||
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 | journal article | |||||
別タイトル | ||||||
その他のタイトル | Clinical Study of the Deletion of Chromosome 22q11 | |||||
著者名 |
門間, 和夫
× 門間, 和夫 |
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著者別名 | ||||||
姓名 | MOMMA, Kazuo | |||||
出版者 | ||||||
出版者 | 東京女子医科大学学会 | |||||
受付日付 | ||||||
日付 | 2010-08-10 | |||||
日付タイプ | Created | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0040-9022 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00161368 | |||||
書誌情報 |
東京女子医科大学雑誌 巻 71, 号 9/10, p. 721-727, 発行日 2001-10-25 |
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著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | The deletion of chromosome 22q11 causes conotruncal anomaly face syndrome. This syndrome was recognized in our Department since mid 1970s. Its chromosomal base was established in 1992. Since then, we have identified 200 patients with fluorescence in-situ hybridization. The most prevalent disease associated with the deletion is tetralogy of Fallot. Tetralogy with the deletion is characteristically associated with anomalies of the aortic arch, ductus arteriosus and pulmonary artery. The prevalence of the deletion is especially high in patients with type B interruption of the aortic arch, tetralogy of Fallot with pulmonary atresia and major aorto-pulmonary collateral arteries, and truncus arteriosus. Mild but progressive mental retardation is common. Schizophrenia develops in some 15% of the adolescent patients. | |||||
著者所属 | ||||||
東京女子医科大学医学部循環器小児科学 |