{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:57Z","timestamp":1761101817539},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2007,4,12]],"date-time":"2007-04-12T00:00:00Z","timestamp":1176336000000},"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":[[2007,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described. We report an infant with mandibulofacial dysostosis and an apparently balanced de novo 2;17 translocation. She presented with severe lower eyelid colobomas requiring skin grafting, malar and mandibular hypoplasia, bilateral microtia with external auditory canal atreasia, dysplastic ossicles, hearing loss, bilateral choanal stenosis, cleft palate without cleft lip, several oral frenula of the upper lip\/gum, and micrognathia requiring tracheostomy. Her limbs were normal. Chromosome analysis at the 600\u2010band level showed a 46,XX,t(2;17)(q24.3;q23) karyotype. Sequencing of the entire <jats:italic>TCOF1<\/jats:italic> coding region did not show evidence of a sequence variation. High\u2010resolution genomic microarray analysis did not identify a cryptic imbalance. FISH mapping refined the breakpoints to 2q31.1 and 17q24.3\u201025.1 and showed the 2q31.1 breakpoint likely affects the <jats:italic>HOXD<\/jats:italic> gene cluster. Several atypical findings and lack of an identifiable <jats:italic>TCOF1<\/jats:italic> mutation suggest that this child has a provisionally unique mandibulofacial dysostosis syndrome. The apparently balanced de novo translocation provides candidate loci for atypical and <jats:italic>TCOF1<\/jats:italic> mutation negative cases of TCS. Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the <jats:italic>HOXD<\/jats:italic> gene cluster produced the described phenotype in this patient. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31715","type":"journal-article","created":{"date-parts":[[2007,4,13]],"date-time":"2007-04-13T01:17:17Z","timestamp":1176427037000},"page":"1053-1059","source":"Crossref","is-referenced-by-count":11,"title":["Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the <i>HOXD<\/i> gene cluster"],"prefix":"10.1002","volume":"143A","author":[{"given":"David A.","family":"Stevenson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven 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