{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T13:31:26Z","timestamp":1774099886345,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,10,9]],"date-time":"2018-10-09T00:00:00Z","timestamp":1539043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:p>Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880\u2009kb microdeletion at 6p25.3 identified by whole\u2010genome array analysis, and was mainly attributable to a <jats:italic>FOXC1<\/jats:italic> haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of <jats:italic>FOXC1<\/jats:italic>. Thus, overlaps with other <jats:italic>FOXC1<\/jats:italic> related phenotypes, such as the 6p25 deletion syndrome, Axenfeld\u2010Rieger syndrome type 3, and ASD type 3. Contrarily, those patients whose r(6) does not disrupt <jats:italic>FOXC1<\/jats:italic>, have mild or moderate phenotypes and do not exhibit ASD.<\/jats:p>","DOI":"10.1111\/cga.12309","type":"journal-article","created":{"date-parts":[[2018,9,18]],"date-time":"2018-09-18T07:08:41Z","timestamp":1537254521000},"page":"174-178","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other <i>FOXC1<\/i> deletion phenotypes"],"prefix":"10.1111","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7968-2267","authenticated-orcid":false,"given":"Jorge Rom\u00e1n","family":"Corona\u2010Rivera","sequence":"first","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit Division of Pediatrics, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"\u2018Dr. Enrique Corona\u2010Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center University of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit Division of Pediatrics, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"\u2018Dr. Enrique Corona\u2010Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center University of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz Consuelo","family":"Zepeda\u2010Romero","sequence":"additional","affiliation":[{"name":"Service of Ophthalmology, Division of Pediatrics \u2018Fray Antonio Alcalde\u2019 Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izabel Maryalexandra","family":"Rios\u2010Flores","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit Division of Pediatrics, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeh\u00fa","family":"Rivera\u2010Vargas","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit Division of Pediatrics, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"\u2018Dr. Enrique Corona\u2010Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center University of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireya","family":"Orozco\u2010Vela","sequence":"additional","affiliation":[{"name":"\u2018Dr. Enrique Corona\u2010Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center University of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uriel Francisco","family":"Santana\u2010Bejarano","sequence":"additional","affiliation":[{"name":"\u2018Dr. Enrique Corona\u2010Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center University of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Torres\u2010Anguiano","sequence":"additional","affiliation":[{"name":"\u2018Dr. Enrique Corona\u2010Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center University of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Pinto\u2010Cardoso","sequence":"additional","affiliation":[{"name":"Department of Human Genetics National Health Institute Doutor Ricardo Jorge  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dezs\u0151","family":"David","sequence":"additional","affiliation":[{"name":"Department of Human Genetics National Health Institute Doutor Ricardo Jorge  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7035-7924","authenticated-orcid":false,"given":"Lucina","family":"Bobadilla\u2010Morales","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit Division of Pediatrics, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"\u2018Dr. Enrique Corona\u2010Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center University of Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32251"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010115)98:2<182::AID-AJMG1028>3.0.CO;2-Y"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-016-0245-9"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000488692"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20413"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","unstructured":"deVosIJ Stegmann AP Webers CA Stumpel CT. The 6p25 deletion syndrome: An update on a rare neurocristopathy.Ophthalmic Genet. 2017;38:101\u2013107.","DOI":"10.3109\/13816810.2016.1164191"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-017-0311-y"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0162-3"},{"key":"e_1_2_5_10_1","first-page":"3","article-title":"Array\u2010CGH characterization and genotype\u2010phenotype analysis in a patient with a ring chromosome 6","volume":"6","author":"Ciocca L","year":"2013","journal-title":"BMC Med Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000074"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591082"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12309","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12309","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cga.12309","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:16:50Z","timestamp":1694323010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,9]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1111\/cga.12309"],"URL":"https:\/\/doi.org\/10.1111\/cga.12309","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,9]]},"assertion":[{"value":"2018-06-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}