{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T09:19:29Z","timestamp":1766481569453,"version":"3.48.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T00:00:00Z","timestamp":1764374400000},"content-version":"vor","delay-in-days":332,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>We report the case of a 3\u2010year\u2010old girl with alpha\u2010thalassemia\/mental retardation linked to chromosome 16 (ATR\u201016) syndrome. The patient presented with hypotonia, developmental delay, and characteristic facial features including hypertelorism and a broad nasal bridge. Blood test results indicated microcytic anemia and normal iron status, suggestive of thalassemia. Genetic analysis revealed that the patient harbored a 465\u2009kb deletion in the 16p13.3 region and a 19.4\u2009Mb duplication in the 16q22.1\u2013q24.3 region. The patient presented with rare complications of ATR\u201016 syndrome, including anal fistula, vesicoureteral reflux (VUR), and patent ductus arteriosus (PDA). Comparison of this case with previously reported patients with pure partial trisomy 16q suggested that the duplicated distal 16q region may be a critical locus associated with VUR and PDA.<\/jats:p>","DOI":"10.1002\/cga.70033","type":"journal-article","created":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T13:50:29Z","timestamp":1764424229000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Co\u2010Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha\u2010Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1\u2013q24.3"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-5966-4370","authenticated-orcid":false,"given":"Hideki","family":"Tamaru","sequence":"first","affiliation":[{"name":"Department of Pediatrics Wakkanai City Hospital  Wakkanai Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Wakkanai City Hospital  Wakkanai Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takamasa","family":"Miyoshi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Wakkanai City Hospital  Wakkanai Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Tanahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Wakkanai City Hospital  Wakkanai Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0341-5709","authenticated-orcid":false,"given":"Yoshio","family":"Makita","sequence":"additional","affiliation":[{"name":"Department of Genetic Counseling Asahikawa Medical University Hospital  Asahikawa Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Research Institute, Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-4010","authenticated-orcid":false,"given":"Satoru","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Asahikawa Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,29]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_9_2_1","DOI":"10.1097\/00005792-199603000-00001"},{"doi-asserted-by":"publisher","key":"e_1_2_9_3_1","DOI":"10.1136\/jmedgenet-2019-106528"},{"issue":"6","key":"e_1_2_9_4_1","first-page":"1112","article-title":"Clinical Features and Molecular Analysis of the Alpha Thalassemia\/Mental Retardation Syndromes. I. Cases due to Deletions Involving Chromosome Band 16p13.3","volume":"46","author":"Wilkie A. O.","year":"1990","journal-title":"American Journal of Human Genetics"},{"doi-asserted-by":"publisher","key":"e_1_2_9_5_1","DOI":"10.1002\/ajmg.a.32056"},{"doi-asserted-by":"publisher","key":"e_1_2_9_6_1","DOI":"10.2478\/bjmg-2020-0009"},{"doi-asserted-by":"publisher","key":"e_1_2_9_7_1","DOI":"10.1002\/ajmg.a.62368"},{"doi-asserted-by":"publisher","key":"e_1_2_9_8_1","DOI":"10.1159\/000515643"},{"doi-asserted-by":"publisher","key":"e_1_2_9_9_1","DOI":"10.1002\/ajmg.a.34034"},{"doi-asserted-by":"publisher","key":"e_1_2_9_10_1","DOI":"10.1002\/ajmg.a.33049"},{"doi-asserted-by":"publisher","key":"e_1_2_9_11_1","DOI":"10.1186\/s12920-023-01716-3"},{"doi-asserted-by":"publisher","key":"e_1_2_9_12_1","DOI":"10.1016\/j.ejmg.2013.01.001"},{"doi-asserted-by":"publisher","key":"e_1_2_9_13_1","DOI":"10.1002\/ajmg.a.36686"},{"doi-asserted-by":"publisher","key":"e_1_2_9_14_1","DOI":"10.1002\/ccr3.3862"},{"doi-asserted-by":"publisher","key":"e_1_2_9_15_1","DOI":"10.1126\/science.1232044"},{"doi-asserted-by":"publisher","key":"e_1_2_9_16_1","DOI":"10.1038\/s41436-018-0060-2"},{"doi-asserted-by":"publisher","key":"e_1_2_9_17_1","DOI":"10.3389\/fgene.2022.1054567"},{"doi-asserted-by":"publisher","key":"e_1_2_9_18_1","DOI":"10.1093\/brain\/awac044"},{"doi-asserted-by":"publisher","key":"e_1_2_9_19_1","DOI":"10.1111\/cge.14615"},{"doi-asserted-by":"publisher","key":"e_1_2_9_20_1","DOI":"10.5457\/p2005-114.153"},{"doi-asserted-by":"publisher","key":"e_1_2_9_21_1","DOI":"10.1681\/ASN.2020050681"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cga.70033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T09:16:22Z","timestamp":1766481382000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/cga.70033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/cga.70033"],"URL":"https:\/\/doi.org\/10.1002\/cga.70033","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"type":"print","value":"0914-3505"},{"type":"electronic","value":"1741-4520"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-06-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70033"}}