{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T07:53:35Z","timestamp":1717142015160},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,10,29]],"date-time":"2014-10-29T00:00:00Z","timestamp":1414540800000},"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":[[2015,1]]},"abstract":"<jats:sec><jats:label \/><jats:p>Chromosome 4q deletion syndrome is a rare intellectual disability disorder caused by a variety of non\u2010recurrent deletions of 4q. We describe the evolution of the phenotypic features of a female patient with a previously unreported deletion of 4q12\u20134q21.21 (hg 18; 54,711,575\u201379,601,919). By review reported individuals with interstitial deletions extending telomeric from 4q12 have syndromic intellectual disability with variable piebaldism. We expand the phenotype to include dolichocephaly, pectus excavatum, hip dysplasia, pes planus, myopia, lens opacities, and an absence of spoken language but not of communication through sign. The proposita also did not have piebaldism suggesting again that piebaldism arises from a mechanism more complex than simple haploinsufficiency of <jats:italic>KIT<\/jats:italic>. Comparing deletions among affected individuals localizes the critical interval within 4q12\u20134q13.1, although the absence of molecular boundaries for nearly all reported cases precludes precise delineation and genotype\u2013phenotype correlation. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36821","type":"journal-article","created":{"date-parts":[[2014,10,29]],"date-time":"2014-10-29T20:49:49Z","timestamp":1414615789000},"page":"231-237","source":"Crossref","is-referenced-by-count":8,"title":["4q12\u20134q21.21 deletion genotype\u2013phenotype correlation and the absence of piebaldism in presence of <i>KIT<\/i> haploinsufficiency"],"prefix":"10.1002","volume":"167","author":[{"given":"Parisa","family":"Hemati","sequence":"first","affiliation":[{"name":"Child and Family Research Institute Vancouver Canada"},{"name":"Department of Medical Genetics University of British Columbia Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christ\u00e8le","family":"du Souich","sequence":"additional","affiliation":[{"name":"Child and Family Research Institute Vancouver Canada"},{"name":"Department of Medical Genetics University of British Columbia Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Child and Family Research Institute Vancouver Canada"},{"name":"Department of Medical Genetics University of British Columbia Vancouver 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