{"created":"2023-06-20T16:59:31.365259+00:00","id":18649,"links":{},"metadata":{"_buckets":{"deposit":"764b219a-b94d-4e4d-ab32-0cf39db64d97"},"_deposit":{"created_by":3,"id":"18649","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"18649"},"status":"published"},"_oai":{"id":"oai:twinkle.repo.nii.ac.jp:00018649","sets":["140:1307:1308:1965:1968"]},"author_link":["266553","266557","266559","266556","266558","266561","266555","266554","266560","266552"],"item_10001_alternative_title_1":{"attribute_name":"別タイトル","attribute_value_mlt":[{"subitem_alternative_title":"Deletion Breakpoint Analysis in 22q11.2 Deletion Syndrome"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002-04-25","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3/4","bibliographicPageEnd":"116","bibliographicPageStart":"108","bibliographicVolumeNumber":"72","bibliographic_titles":[{"bibliographic_title":"東京女子医科大学雑誌"}]}]},"item_10001_creator_2":{"attribute_name":"著者名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"古谷, 喜幸"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"松岡, 瑠美子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"蓑島, 伸生"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"木村, 美佐"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"中澤, 誠"}],"nameIdentifiers":[{}]}]},"item_10001_date_25":{"attribute_name":"受付日付","attribute_value_mlt":[{"subitem_date_issued_datetime":"2010-08-10","subitem_date_issued_type":"Created"}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Conotruncal anomaly face syndrome (CAFS), DiGeorge syndrome (DGS), and velo-cardio-facial syndrome have similar but varying phenotypic spectra, i.e., cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia, and share deletion of 22q11.2 as a common feature. The aim of this study was to investigate the difference in size of the deletion of the 22q11.2 region between CAFS and DGS. Fifty probands (30 CAFS probands and 20 DGS probands), with a type A1 (3 Mb) deletion were examined by fluorescent in situ hybridization (FISH) using 4 probes of the 22q11.2 region. In this study, we showed that CAFS and DGS which have the type A1 (3 Mb) deletion have the same deletion size and the chromosome breakpoints of CAFS and DGS occurred within two complex repeats, LCR22-2 and LCR22-4, that are 3 Mb apart and that the deletions arose from unequal meiotic recombination events. It is important to determine whether the chromosome breakpoints occur in clustered regions or at random sites of sequence homology, since elucidation of the mechanism in which the deletion generated is necessary.","subitem_description_type":"Abstract"}]},"item_10001_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"266557","nameIdentifierScheme":"WEKO"}],"names":[{"name":"FURUTANI, Yoshiyuki"}]},{"nameIdentifiers":[{"nameIdentifier":"266558","nameIdentifierScheme":"WEKO"}],"names":[{"name":"MATSUOKA, Rumiko"}]},{"nameIdentifiers":[{"nameIdentifier":"266559","nameIdentifierScheme":"WEKO"}],"names":[{"name":"MINOSHIMA, Shinsei"}]},{"nameIdentifiers":[{"nameIdentifier":"266560","nameIdentifierScheme":"WEKO"}],"names":[{"name":"KIMURA, Misa"}]},{"nameIdentifiers":[{"nameIdentifier":"266561","nameIdentifierScheme":"WEKO"}],"names":[{"name":"NAKAZAWA, Makoto"}]}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"東京女子医科大学学会"}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN00161368","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0040-9022","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_35":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"東京女子医科大学医学部循環器小児科学"},{"subitem_text_value":"東京女子医科大学医学部循環器小児科学"},{"subitem_text_value":"慶應義塾大学医学部分子生物学教室"},{"subitem_text_value":"東京女子医科大学医学部循環器小児科学"},{"subitem_text_value":"東京女子医科大学医学部循環器小児科学"}]},"item_10001_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-03-27"}],"displaytype":"detail","filename":"KJ00006019503.pdf","filesize":[{"value":"931.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"KJ00006019503.pdf","url":"https://twinkle.repo.nii.ac.jp/record/18649/files/KJ00006019503.pdf"},"version_id":"e5024bd0-8077-4e5a-a4dc-8ce46c49c533"}]},"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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"22q11.2欠失症候群における欠失範囲の検索","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"22q11.2欠失症候群における欠失範囲の検索"}]},"item_type_id":"10001","owner":"3","path":["1968"],"pubdate":{"attribute_name":"公開日","attribute_value":"2010-08-10"},"publish_date":"2010-08-10","publish_status":"0","recid":"18649","relation_version_is_last":true,"title":["22q11.2欠失症候群における欠失範囲の検索"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-06-20T22:25:15.058200+00:00"}