{"created":"2023-08-02T03:55:43.874346+00:00","id":4668,"links":{},"metadata":{"_buckets":{"deposit":"db392ee1-1a6d-46c3-aaab-d0cb87a72af0"},"_deposit":{"created_by":10,"id":"4668","owners":[10],"pid":{"revision_id":0,"type":"depid","value":"4668"},"status":"published"},"_oai":{"id":"oai:repository.lib.tottori-u.ac.jp:00004668","sets":["1:9","2:12","23:34:983:984"]},"author_link":["2906","28","16693","1921","2573","16694","16695","16696","16697","16698","16699","16700"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021-02-22","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"33","bibliographicPageStart":"30","bibliographicVolumeNumber":"64","bibliographic_titles":[{"bibliographic_title":"Yonago Acta Medica"},{"bibliographic_title":"Yonago Acta Medica","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"[Background] Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown. [Methods] We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey. [Results] We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (median = 29). Behavioral disorders were seen in all patients (autistic spectrum disorder in six patients, hyperactivity in five patients). Five patients were diagnosed by polymerase chain reaction analysis, and two patients were diagnosed by the cytogenetic study. All physicians ordered FXS genetic testing for suspicious cases because of clinical manifestations. [Conclusion] In the present study, a long face, large ears, macrocephaly, autistic spectrum disorder, and hyperactivity were observed in almost cases, and these characteristics might be common features in Japanese FXS patients. Our finding indicated the importance of clinical manifestations to diagnosis FXS. However, the sample size of the present study is small, and these features are also seen to patients with other disorders. We consider that genetic testing for FXS should be performed on a wider range of intellectually disabled cases.","subitem_description_type":"Other"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Tottori University Medical Press"}]},"item_10001_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.33160/yam.2021.02.005","subitem_relation_type_select":"DOI"}}]},"item_10001_relation_16":{"attribute_name":"情報源","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"T. Okazaki, K. Adachi, K. Matsuura, et al. Clinical Characteristics of Fragile X Syndrome Patients in Japan. Yonago Acta Medica. 2021, 64(1), 30-33. doi:10.33160/yam.2021.02.005"}]}]},"item_10001_relation_17":{"attribute_name":"関連サイト","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"http://www.lib.tottori-u.ac.jp/yam/yam/yam64-1/64-1contents.html"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.lib.tottori-u.ac.jp/yam/yam/yam64-1/64-1contents.html","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://www.jstage.jst.go.jp/article/yam/64/1/64_2021.02.005/_article/-char/ja"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://www.jstage.jst.go.jp/article/yam/64/1/64_2021.02.005/_article/-char/ja","subitem_relation_type_select":"URI"}}]},"item_10001_rights_15":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"(C) 2021 Tottori University Medical Press"}]},"item_10001_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00892882","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"05135710","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_26":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_text_value":"13468049"}]},"item_10001_text_33":{"attribute_name":"著者所属（英）","attribute_value_mlt":[{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital"},{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital"},{"subitem_text_language":"en","subitem_text_value":"Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Yokohama City University Medical Center"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Nose Pediatric Clinic"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Ashikaganomori Hospital"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Soka Municipal Hospital"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center"},{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital / Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University"},{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital / Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University"}]},"item_10001_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"岡崎, 哲也"},{"creatorName":"オカザキ, テツヤ","creatorNameLang":"ja-Kana"},{"creatorName":"Okazaki, Tetsuya","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"足立, 香織"},{"creatorName":"アダチ, カオリ","creatorNameLang":"ja-Kana"},{"creatorName":"Adachi, Kaori","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"ハセガワ, タケシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"前垣"},{"creatorName":"マエガキ, ヨシヒロ","creatorNameLang":"ja-Kana"},{"creatorName":"Maegaki, Yoshihiro","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"難波, 栄二"},{"creatorName":"ナンバ, エイジ","creatorNameLang":"ja-Kana"},{"creatorName":"Namba, Eiji","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"Matsuura, Kaori","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Oyama, Yoshitaka","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nose, Madoka","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Shirahata, Emi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Abe, Toshiaki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hasegawa, Takeshi","creatorNameLang":"en"},{"creatorName":"ハセガワ, タケシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Maihara, Toshiro","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":"2023-03-15"}],"displaytype":"detail","filename":"yam64(1)_030.pdf","filesize":[{"value":"528.2 kB"}],"format":"application/pdf","licensefree":"(C) 2021 Tottori University Medical Press","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"yam64(1)_030.pdf","url":"https://repository.lib.tottori-u.ac.jp/record/4668/files/yam64(1)_030.pdf"},"version_id":"e540eefc-cb36-4a12-be71-9c263d0ec272"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"CGG repeat expansion","subitem_subject_scheme":"Other"},{"subitem_subject":"FMR1 gene","subitem_subject_scheme":"Other"},{"subitem_subject":"fragile X syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"genetic testing","subitem_subject_scheme":"Other"},{"subitem_subject":"intellectual disability","subitem_subject_scheme":"Other"},{"subitem_subject":"CGG repeat expansion","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"FMR1 gene","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"fragile X syndrome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"genetic testing","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"intellectual disability","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":"journal article"}]},"item_title":"Clinical Characteristics of Fragile X Syndrome Patients in Japan","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Clinical Characteristics of Fragile X Syndrome Patients in Japan","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"10","path":["12","9","984"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2021-03-17"},"publish_date":"2021-03-17","publish_status":"0","recid":"4668","relation_version_is_last":true,"title":["Clinical Characteristics of Fragile X Syndrome Patients in Japan"],"weko_creator_id":"10","weko_shared_id":-1},"updated":"2023-09-28T23:49:01.737402+00:00"}