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The CTHDs in this group were tetralogy of Fallot (four cases), double\u2010outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo\u2010auriculo\u2010vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2\u2013C3, and posterior fusion of the T1\u2010T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10832","type":"journal-article","created":{"date-parts":[[2002,12,20]],"date-time":"2002-12-20T14:07:23Z","timestamp":1040393243000},"page":"129-135","source":"Crossref","is-referenced-by-count":67,"title":["Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects"],"prefix":"10.1002","volume":"116A","author":[{"given":"Murat","family":"Derbent","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zerrin","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volkan","family":"Baltac\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arda","family":"Sayg\u0131l\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birg\u00fcl","family":"Varan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00fcr\u015fat","family":"Tokel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00223856"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051257"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.822"},{"key":"e_1_2_5_5_1","first-page":"276","article-title":"Oculoauriculovertebral spectrum: an updated critique","volume":"26","author":"Cohen MM","year":"1989","journal-title":"Cleft Palate J"},{"key":"e_1_2_5_6_1","first-page":"1121","volume-title":"Principles and practice of medical genetics","author":"Cohen MM","year":"1997"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrd.1080280104"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02265254"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957162"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.11.942"},{"key":"e_1_2_5_11_1","first-page":"137","article-title":"Microdeletion 22q11 and oesophageal atresia","volume":"36","author":"Digilio MC","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_12_1","first-page":"924","article-title":"A genetic etiology for Di\u2010George syndrome: consistent deletions and microdeletions of 22q11","volume":"50","author":"Driscoll DA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.109024"},{"key":"e_1_2_5_14_1","first-page":"51","article-title":"The deletions of 22q11\u2014the Portuguese experience","volume":"10","author":"Gaspar IM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_5_15_1","first-page":"807","article-title":"Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype","volume":"30","author":"Giannotti A","year":"1994","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.807"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(98)00259-9"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050959"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340424"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460111"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000605)92:4<269::AID-AJMG9>3.0.CO;2-L"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I"},{"key":"e_1_2_5_23_1","first-page":"25","article-title":"Congenital heart defects in patients with DiGeorge\/velocardiofacial syndrome and del22q11","volume":"10","author":"Marino B","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590122"},{"key":"e_1_2_5_25_1","first-page":"11","article-title":"The Philadelphia story: 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald\u2010McGinn DM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050385"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(96)00374-8"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900414"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250602"},{"key":"e_1_2_5_30_1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1093\/oso\/9780199632909.001.0001","volume-title":"Human cytogenetics. 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