{"created":"2021-03-01T06:39:21.891167+00:00","id":30984,"links":{},"metadata":{"_buckets":{"deposit":"e5b5e484-2f22-493a-add6-2b854646b42d"},"_deposit":{"created_by":17,"id":"30984","owners":[17],"pid":{"revision_id":0,"type":"depid","value":"30984"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:00030984","sets":["499:508:509:2601"]},"author_link":["102476","102477","102478","102479","102480","102481","102482"],"item_1615768549627":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_9_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-11","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"790","bibliographicPageStart":"783","bibliographicVolumeNumber":"82","bibliographic_titles":[{"bibliographic_title":"Nagoya Journal of Medical Science","bibliographic_titleLang":"en"}]}]},"item_9_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Quantitative Fluorescent – Polymerase Chain Reaction (QF-PCR) is a rapid prenatal diagnosis test for 21, 18, 13 and sex chromosomal aneuploidy detection. However, it could not detect partial trisomy or partial monosomy of those chromosomes. Here, we report a 19-month-old Vietnamese female with a 9.9 Mb pure deletion of chromosome 18 at 18p11.32–11.22 confirmed by next generation sequencing. The patient was short statured with facial dysmorphic features as well as motor skill and speech delays. First trimester screening showed high risk of trisomy 21 with only increased nuchal translucency (NT 3.9 mm) by ultrasound as an indication. Prenatal diagnosis by QF-PCR from amniotic DNA revealed normal disomy. Noticeably, two short tandem repeat (STR) markers D18S391 and D18S976 located on 18p exhibited uninformative patterns (one peak). Thus, our case suggested that the combination of both D18S391 and D18S976 markers with uninformative patterns in QF-PCR for prenatal diagnosis and increased NT in the first trimester ultrasound may be a significant indication of 18p monosomy.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.18999/nagjms.82.4.783","subitem_identifier_reg_type":"JaLC"}]},"item_9_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Nagoya University Graduate School of Medicine, School of Medicine","subitem_publisher_language":"en"}]},"item_9_relation_43":{"attribute_name":"関連情報","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/824.html ","subitem_relation_type_select":"URI"}}]},"item_9_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International","subitem_rights_language":"en","subitem_rights_resource":"http://creativecommons.org/licenses/by-nc-nd/4.0/"}]},"item_9_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_9_source_id_61":{"attribute_name":"ISSN（Online）","attribute_value_mlt":[{"subitem_source_identifier":"2186-3326","subitem_source_identifier_type":"EISSN"}]},"item_9_source_id_7":{"attribute_name":"ISSN（print）","attribute_value_mlt":[{"subitem_source_identifier":"0027-7622","subitem_source_identifier_type":"PISSN"}]},"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":"Le, Thanh Nha Uyen","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"102476","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Nguyen, Viet Nhan","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"102477","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Doan, Thi Duyen Anh","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"102478","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Doan, Huu Nhat Binh","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"102479","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Le, Phan Tuong Quynh","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"102480","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Le, Tuan Linh","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"102481","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Ha, Thi Minh Thi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"102482","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-11-26"}],"displaytype":"detail","filename":"18_Le.pdf","filesize":[{"value":"22.8 MB"}],"format":"application/pdf","licensetype":"license_5","mimetype":"application/pdf","url":{"label":"18_Le.pdf","objectType":"fulltext","url":"https://nagoya.repo.nii.ac.jp/record/30984/files/18_Le.pdf"},"version_id":"94482d32-2a82-4cf3-b8fe-d1436e4b5153"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"18p monosomy","subitem_subject_scheme":"Other"},{"subitem_subject":"QF-PCR","subitem_subject_scheme":"Other"},{"subitem_subject":"increased nuchal translucency","subitem_subject_scheme":"Other"},{"subitem_subject":"D18S391","subitem_subject_scheme":"Other"},{"subitem_subject":"D18S976","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22","subitem_title_language":"en"}]},"item_type_id":"9","owner":"17","path":["2601"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-11-26"},"publish_date":"2020-11-26","publish_status":"0","recid":"30984","relation_version_is_last":true,"title":["An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22"],"weko_creator_id":"17","weko_shared_id":-1},"updated":"2023-11-16T02:45:16.464183+00:00"}