{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T15:19:53Z","timestamp":1762787993078,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T00:00:00Z","timestamp":1762732800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Chromosome 6q deletion syndrome is a rare entity that has a highly variable clinical presentation and size of deletions. The most frequent manifestations of 6q terminal deletion are intellectual disability, facial dysmorphism, brain structural anomalies, and congenital heart defects. The phenotype is not clinically recognizable, except in those who harbor a terminal 6q deletion that includes the ARID1B gene, in whom features similar to Coffin\u2013Siris syndrome (CSS) can be observed. We report the case of a female newborn with a prenatal diagnosis of a terminal deletion on 6q25.1q27, which encompasses the ARID1B gene, and who was diagnosed with CSS during the neonatal period. From our review, we found that facial gestalt, hypertrichosis, and fifth fingernail aplasia\/hypoplasia, along with other features, such as vertebral defects and cystic hygroma (or webbed neck), correlated with the presence of a CSS causally related to 6q25.3 small deletions that include the ARID1B gene.<\/jats:p>","DOI":"10.3390\/genes16111365","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T15:07:31Z","timestamp":1762787251000},"page":"1365","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin\u2013Siris Syndrome: Phenotypic Delineation and Review"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2263-8307","authenticated-orcid":false,"given":"Christian","family":"Pe\u00f1a-Padilla","sequence":"first","affiliation":[{"name":"Service of Genetics, Division of Pediatrics, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara, Guadalajara 44340, Mexico"},{"name":"Doctorate in Multidisciplinary Research in Health, University Center of Tonala, University of Guadalajara, Tonala 45425, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5260-7723","authenticated-orcid":false,"given":"David Alejandro","family":"Mart\u00ednez-Ceccopieri","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Unit, Division of Obstetrics and Gynecology, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3120-4323","authenticated-orcid":false,"given":"Evelin Montserrat","family":"Garc\u00eda-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Research Coordination, \u201cFray Antonio Alcalde\u201d Civil Hospital of Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7324-2287","authenticated-orcid":false,"given":"Lucina","family":"Bobadilla-Morales","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara, Guadalajara 44340, Mexico"},{"name":"Dr. Enrique Corona-Rivera Institute of Human Genetics, Health Sciences University Center, University of Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4626-148X","authenticated-orcid":false,"given":"Jorge Rom\u00e1n","family":"Corona-Rivera","sequence":"additional","affiliation":[{"name":"Service of Genetics, Division of Pediatrics, \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara, Guadalajara 44340, Mexico"},{"name":"Dr. Enrique Corona-Rivera Institute of Human Genetics, Health Sciences University Center, University of Guadalajara, Guadalajara 44340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"key":"ref_1","first-page":"139","article-title":"Long arm deletion of chromosome no. 6 in a mentally retarded boy with multiple physical malformations","volume":"19","author":"Kalicanin","year":"1975","journal-title":"J. Ment. Defic. Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<377::AID-AJMG9>3.0.CO;2-Q","article-title":"New insights into the phenotypes of 6q deletions","volume":"70","author":"Hopkin","year":"1997","journal-title":"Am. J. Med. 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