{"created":"2023-06-20T15:50:33.159915+00:00","id":3365,"links":{},"metadata":{"_buckets":{"deposit":"9318cbcf-2bea-4fe9-8aec-bb7d015312e4"},"_deposit":{"created_by":18,"id":"3365","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"3365"},"status":"published"},"_oai":{"id":"oai:redcross.repo.nii.ac.jp:00003365","sets":["99:64:117"]},"author_link":["8108","31","8106","90","8107","7683","7251","8105"],"item_5_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2006-03-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"55","bibliographicPageStart":"51","bibliographicVolumeNumber":"11","bibliographic_titles":[{"bibliographic_title":"徳島赤十字病院医学雑誌"},{"bibliographic_title":"Tokushima Red Cross Hospital Medical Journal","bibliographic_titleLang":"en"}]}]},"item_5_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"症例は1歳7ヶ月の男児である．以前より精神運動発達遅滞を指摘されていた．発語なく，つかまり立ち程度，多動傾向．しかし機嫌は良く，よく笑う．2003年4月，発熱時に全身強直痙攣が出現，当院に救急搬送されたがジアゼパム静注により痙攣は抑止された．病歴より染色体異常症を疑いG-band 分析を依頼したところ15番染色体q11-q13の部分欠失が認められ，FISH 法によりAngelman 症候群と確定診断した．Angelman 症候群は重度の精神運動発達遅滞，ぎこちない動作，多動，よく笑う，小頭症，色白，てんかんなどの特徴を示し，発症にゲノム刷り込み現象が関係してい\r\nるとされる．G-band 分析は本症においては責任領域の微細欠失を検出できないことが多く，通常FISH 法による検査などが必要になるが，本例のような場合もあるため，診断に迷う場合にまず行って見る価値がある検査と思われる．","subitem_description_type":"Abstract"}]},"item_5_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"8108","nameIdentifierScheme":"WEKO"}],"names":[{"name":"TODA, 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imprinting","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"epilepsy","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"technical report","resourceuri":"http://purl.org/coar/resource_type/c_18gh"}]},"item_title":"染色体G‐band検査をきっかけに診断されたAngelman症候群の1男児例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"染色体G‐band検査をきっかけに診断されたAngelman症候群の1男児例"},{"subitem_title":"An Example of the Boy of Angelman Syndrome Diagnosed Starting with Chrmosome G-band Analysis","subitem_title_language":"en"}]},"item_type_id":"5","owner":"18","path":["117"],"pubdate":{"attribute_name":"公開日","attribute_value":"2013-05-04"},"publish_date":"2013-05-04","publish_status":"0","recid":"3365","relation_version_is_last":true,"title":["染色体G‐band検査をきっかけに診断されたAngelman症候群の1男児例"],"weko_creator_id":"18","weko_shared_id":18},"updated":"2023-06-20T22:02:45.153080+00:00"}