{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T14:27:31Z","timestamp":1790260051711,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T00:00:00Z","timestamp":1364256000000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Pierre Robin sequence (PRS) is a malformation pattern characterized by the core triad of retrognathia, glossoptosis, and cleft palate that causes difficulty in glossopharyngeal\u2013laryngeal\u2013vagal functions. The etiology of PRS remains largely unknown; previous reports have suggested that it is caused by intrauterine constriction or external conditions such as oligohydramnios, breech position, or abnormal uterine anatomy. Genetic causes include occurrence as a manifestation of many single gene conditions and chromosomal rearrangements. Positional effect on some loci or genes, including <jats:italic>SOX9<\/jats:italic> has also been posited as a cause. Here, we report on an 18\u2010month\u2010old girl born with isolated PRS. Clinical chromosome microarray analysis (CMA) revealed a maternally inherited \u223c623\u2009kb microdeletion that is \u2212725\u2009kb upstream of 5\u2032 <jats:italic>SOX9<\/jats:italic> at chromosome locus 17q24.3. Her mother had cleft palate. This region, although devoid of any genes, is known to have a position effect on <jats:italic>SOX9<\/jats:italic> due to elimination of highly conserved non\u2010coding <jats:italic>cis<\/jats:italic>\u2010regulatory elements. This report supports the evidence that deregulation of an intact <jats:italic>SOX9<\/jats:italic> coding region is a cause of or associated with isolated PRS, and provides further evidence that CMA in the clinical setting is a powerful tool in detecting microdeletions in gene \u201cdesert\u201d regions that have pathogenic position effect on specific genes. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35847","type":"journal-article","created":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T04:17:05Z","timestamp":1364357825000},"page":"1167-1172","source":"Crossref","is-referenced-by-count":39,"title":["Familial Microdeletion of 17q24.3 Upstream of <scp><i>SOX<\/i><\/scp><i>9<\/i> Is Associated With Isolated Pierre Robin Sequence Due to Position Effect"],"prefix":"10.1002","volume":"161","author":[{"given":"Ina E.","family":"Amarillo","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina M.","family":"Dipple","sequence":"additional","affiliation":[{"name":"Department of Human Genetics and Pediatrics David Geffen School of Medicine, University of California Los Angeles Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiola","family":"Quintero\u2010Rivera","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1017802"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.329"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100255"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm061"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2005.04.001"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1010311"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/372525a0"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35308"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068361"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1597\/05-008.1"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046177"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000302403"},{"key":"e_1_2_7_14_1","first-page":"649","article-title":"Isolated 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