{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:17:29Z","timestamp":1762175849367},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4540,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with a de novo interstitial deletion of chromosome 4p; 46,XY,del(4) (p15.31p16.3). The cytogenetic diagnosis would predict a patient with the Wolf\u2010Hirschhorn syndrome (WHS) since deletions of 4p16 are associated with WHS [Wilson et al., 1981]. This patient lacks the facial characteristics of WHS, but has some anomalies of WHS that are also commonly seen in other syndromes, i.e., severe growth retardation, developmental delay, and hypospadias. His molecular distal breakpoint occurs in 4p16.3 as defined by fluorescence in situ hybridization and Southern blot analysis, and his deletion does not overlap with the currently proposed WHS critical region. This case gives further support to the distal position of the WHS critical region and demonstrates some of the WHS associated phenotypes that can be attributed to a deletion of the proximal third of 4p16.3. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450123","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:25Z","timestamp":1118506885000},"page":"97-100","source":"Crossref","is-referenced-by-count":17,"title":["Interstitial deletion of distal chromosome 4p in a patient without classical Wolf\u2010Hirschhorn syndrome"],"prefix":"10.1002","volume":"45","author":[{"given":"Laurel L.","family":"Estabrooks","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen W.","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Korf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1235","article-title":"Molecular confirmation of Wolf\u2010Hirschhorn syndrome with a subtle translocation of chromosome 4","volume":"49","author":"Altherr MR","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"17","volume-title":"ACT Cytogenetic Laboratory Manual","author":"Barch J","year":"1991"},{"key":"e_1_2_1_4_1","first-page":"7","article-title":"Defined physical limits of the Huntington disease gene candidate region","volume":"49","author":"Bates GP","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","unstructured":"EstabrooksLL LambAN KirkmanHN CallananNP RaoKW(1992) A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf\u2010Hirschhorn syndrome phenotype.Am J Hum Genet(in press)."},{"key":"e_1_2_1_6_1","first-page":"310","article-title":"Critical region responsible for the Wolf\u2010Hirschhorn syndrome: 2Mb distal to D4S43","volume":"49","author":"Gandelman K","year":"1991","journal-title":"Am J Hum Genet Suppl"},{"key":"e_1_2_1_7_1","first-page":"90","volume-title":"The Malformed Infant and Child","author":"Goodman RM","year":"1983"},{"key":"e_1_2_1_8_1","volume-title":"An International System for Human Cytogenetic Nomenclature","author":"Harnden DG","year":"1985"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133000"},{"key":"e_1_2_1_10_1","first-page":"1","article-title":"Invited editorial: The end in sight for Huntington Disease?","volume":"49","author":"Pritchard C","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295461"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T13:51:25Z","timestamp":1698241885000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,1]]}},"alternative-id":["10.1002\/ajmg.1320450123"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450123","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,1]]}}}