{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:19:15Z","timestamp":1791141555759,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2008,2,26]],"date-time":"2008-02-26T00:00:00Z","timestamp":1203984000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This 15\u2010month boy was expressed at the cytogenetic laboratory because of psychomotor development delay. He was tall and had plagiocephaly, micrognathia, high nasal bridge, anteverted nostrils and pectus excavatum. A 46,XY,del(4)(p16.1p16.3) karyotype was found using high\u2010resolution R\u2010banding technique. FISH studies using the LSI Wolf\u2013Hirschhorn dual color 4p16.3 and the TelVysion 4p probes showed no deletion. Using BACs, the distal breakpoint was located in 4p16.3, between RP11\u2010165K4 and RP11\u2010717M10 and the proximal breakpoint in 4p15.33, between RP11\u201074M11 and RP11\u20101J7; therefore, approximately 7.96 Mb of the short arm were deleted. The maternal karyotype showed the same deletion, but in a mosaic status. Two distinct phenotypes have been recognized on the basis of the chromosomal bands involved in 4p deletion: the Wolf\u2013Hirschhorn syndrome (WHS) and a proximal 4p deletion syndrome (4p15.2\u2013p15.32). Our observation confirms that the basic WHS phenotype maps distally to this region. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32138","type":"journal-article","created":{"date-parts":[[2008,2,27]],"date-time":"2008-02-27T00:18:50Z","timestamp":1204071530000},"page":"899-903","source":"Crossref","is-referenced-by-count":16,"title":["Familial interstitial deletion of the short arm of chromosome 4 (p15.33\u2013p16.3) characterized by molecular cytogenetic analysis"],"prefix":"10.1002","volume":"146A","author":[{"given":"Audrey","family":"Basinko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Douet\u2010Guilbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Parent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Blondin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mingam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Monot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Morel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Jos\u00e9e","family":"Le Bris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"De Braekeleer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,2,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550203"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450123"},{"key":"e_1_2_7_4_1","first-page":"479","article-title":"Deletion of short arms of chromosome 4\u20135 in a child with defects of the midline fusion","volume":"1","author":"Hirschhorn K","year":"1965","journal-title":"Humangenetik"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03586.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<316::AID-AJMG3>3.0.CO;2-1"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(03)00029-7"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016865"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570415"},{"key":"e_1_2_7_10_1","first-page":"397","article-title":"Defizienz an der kurzen Armen eines Chromosoms nr. 4","volume":"1","author":"Wolf U","year":"1965","journal-title":"Humangenetik"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/367925"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32138","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T05:44:10Z","timestamp":1697607850000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,26]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["10.1002\/ajmg.a.32138"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32138","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,26]]}}}