{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:56:44Z","timestamp":1790081804417,"version":"4.0.1"},"reference-count":46,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T00:00:00Z","timestamp":1371772800000},"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":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Cat\u2010Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, &gt;60% of the patients lack these primary features. Here, we present a 9\u2010month\u2010old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right\u2010sided muscular torticollis, esotropia, and an atretic right ear canal with low\u2010to\u2010moderate sensorineural hearing loss, bilateral preauricular ear tag\/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1\u2013q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35895","type":"journal-article","created":{"date-parts":[[2013,6,22]],"date-time":"2013-06-22T01:58:56Z","timestamp":1371866336000},"page":"1985-1991","source":"Crossref","is-referenced-by-count":20,"title":["Hemifacial microsomia in cat\u2010eye syndrome: 22q11.1\u2013q11.21 as candidate loci for facial symmetry"],"prefix":"10.1002","volume":"161","author":[{"given":"Fabiola","family":"Quintero\u2010Rivera","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine University of California Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian A.","family":"Martinez\u2010Agosto","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, and Human Genetics, David Geffen School of Medicine University of California Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.03.025"},{"key":"e_1_2_6_3_1","first-page":"281","article-title":"Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22)","volume":"17","author":"Balci S","year":"2006","journal-title":"Genet 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