{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:15:08Z","timestamp":1787066108644,"version":"build-2736575974"},"reference-count":9,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,2,17]]},"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:p>\u200bThe advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented: macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature.<\/jats:p>","DOI":"10.1136\/bcr-2019-231938","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T05:34:22Z","timestamp":1583732062000},"page":"e231938","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands"],"prefix":"10.1136","volume":"13","author":[{"given":"Ana","family":"G\u00f3mez-Carpintero Garc\u00eda","sequence":"first","affiliation":[{"name":"Pediatr\u00eda, Hospital Universitario de M\u00f3stoles, Mostoles, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Vidal Esteban","sequence":"additional","affiliation":[{"name":"Pediatr\u00eda, Hospital Universitario de M\u00f3stoles, Mostoles, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Bermejo G\u00f3mez","sequence":"additional","affiliation":[{"name":"Pediatr\u00eda, Hospital Universitario de M\u00f3stoles, Mostoles, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth Camila","family":"P\u00faa Torrej\u00f3n","sequence":"additional","affiliation":[{"name":"Pediatr\u00eda, Hospital Universitario de M\u00f3stoles, Mostoles, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,3,8]]},"reference":[{"key":"2025082800245003000_13.3.e231938.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1772-0"},{"key":"2025082800245003000_13.3.e231938.2","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1002\/ajmg.a.38139","article-title":"Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly","volume":"173","author":"Raun","year":"2017","journal-title":"Am J Med Genet A"},{"key":"2025082800245003000_13.3.e231938.3","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2014.57.6.292"},{"key":"2025082800245003000_13.3.e231938.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.08.005"},{"key":"2025082800245003000_13.3.e231938.5","doi-asserted-by":"publisher","DOI":"10.1086\/519999"},{"key":"2025082800245003000_13.3.e231938.6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35423"},{"key":"2025082800245003000_13.3.e231938.7","doi-asserted-by":"crossref","DOI":"10.1186\/s13039-018-0406-0","article-title":"Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation","volume":"11","author":"Mohamed","year":"2018","journal-title":"Mol Cytogenet"},{"key":"2025082800245003000_13.3.e231938.8","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1007\/s10038-004-0166-z","article-title":"A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome","volume":"49","author":"Harada","year":"2004","journal-title":"J Hum Genet"},{"key":"2025082800245003000_13.3.e231938.9","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/ajmg.c.30148","article-title":"The chromosome 9q subtelomere deletion syndrome","volume":"145C","author":"Stewart","year":"2007","journal-title":"Am J Med Genet C Semin Med Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-231938","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:24:58Z","timestamp":1756365898000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-231938"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,3,8]]},"published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1136\/bcr-2019-231938"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-231938","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3]]}}}