{"created":"2023-06-20T15:48:33.739481+00:00","id":3082,"links":{},"metadata":{"_buckets":{"deposit":"8e2b9635-916d-481f-8c39-31eaa5b40681"},"_deposit":{"created_by":4,"id":"3082","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"3082"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00003082","sets":["2:15:17"]},"author_link":["9067"],"item_5_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"正常核型を有する日本人非症候性知的障害患者55例のゲノムワイドアレイ比較ゲノムハイブリダイゼーション法による解析","subitem_alternative_title_language":"ja"}]},"item_5_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2016-11-07","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageStart":"108","bibliographicVolumeNumber":"2","bibliographic_titles":[{"bibliographic_title":"Journal of Pediatric Neurological Disorders","bibliographic_titleLang":"en"}]}]},"item_5_date_granted_17":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2017-03-13"}]},"item_5_degree_grantor_15":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"浜松医科大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"13802","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_5_degree_name_12":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）","subitem_degreename_language":"ja"}]},"item_5_description_13":{"attribute_name":"学位の区分","attribute_value_mlt":[{"subitem_description":"doctoral","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_5_description_14":{"attribute_name":"学位の分野","attribute_value_mlt":[{"subitem_description":"医学系研究科","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_5_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background: Genomewide array comparative genomic hybridization (aCGH) has widely been utilized as the diagnostic tool in patients with non-syndromic intellectual disability (ID). Indeed, aCGH has identified pathogenic copy number variants (pCNVs), as well as variants of uncertain clinical significance (VsUS) and benign CNVs (bCNVs), in such patients.\nAims: To examine the frequencies of various CNVs and clinical findings in patients with non-syndromic ID.\nPatients and methods: We studied 55 Japanese normokaryotypic patients (35 males, 20 females) with apparently non-syndromic ID. Genomewide aCGH was performed using leukocyte genomic DNA samples. Clinical findings were compared among patients with pCNVs (group 1), those with VsUS (group 2), and those with bCNVs or no CNVs (group 3).\nResults: Nine patients had pCNVs: one had 5p deletion syndrome, two had 22q11.2 deletion syndrome, one had 17q23.1q23.2 microdeletion syndrome, three had CNVs involving known pathogenic genes, and the remaining two had CNVs overlapping with previously described CNVs in patients with ID (one with duplication at 1q36 and the other with deletion at 12q42). Furthermore, 11 patients had VsUS, and nine patients had bCNVs. Clinical findings were grossly comparable among groups 1-3.\nConclusions: The results provide further support for the usefulness of aCGH in the identification of underlying genetic factor(s) for ID, although there was no clinical finding indicative of the presence of pCNVs or VsUS. Furthermore, our data are expected to serve to identify pathogenic genes on chromosomes 1q36 and 12q42, as well as those on several VsUS.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_5_dissertation_number_18":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第758号"}]},"item_5_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"OMICS International","subitem_publisher_language":"en"}]},"item_5_relation_28":{"attribute_name":"出版社DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.4172/2572-5203.1000108","subitem_relation_type_select":"DOI"}}]},"item_5_rights_7":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright: 2016 Asahina M, et al.","subitem_rights_language":"en"}]},"item_5_version_type_32":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Asahina, Miki","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-08-27"}],"displaytype":"detail","filename":"DT_758ronbun.pdf","filesize":[{"value":"315.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"論文本文","objectType":"fulltext","url":"https://hama-med.repo.nii.ac.jp/record/3082/files/DT_758ronbun.pdf"},"version_id":"62542f3a-e01d-4d71-8f78-97f17a73661a"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Array comparative genomic hybridization","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Intellectual disability","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Copy number variants","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Pathogenic gene","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Clinical finding","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability","subitem_title_language":"en"}]},"item_type_id":"5","owner":"4","path":["17"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2018-03-06"},"publish_date":"2018-03-06","publish_status":"0","recid":"3082","relation_version_is_last":true,"title":["Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2023-10-18T02:56:13.516117+00:00"}