{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T06:42:41Z","timestamp":1767854561784,"version":"3.49.0"},"reference-count":33,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1097\/mcd.0b013e328317c884","type":"journal-article","created":{"date-parts":[[2008,10,27]],"date-time":"2008-10-27T07:09:34Z","timestamp":1225091374000},"page":"13-17","source":"Crossref","is-referenced-by-count":7,"title":["Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome"],"prefix":"10.1097","volume":"18","author":[{"given":"Aleksandra","family":"Jezela-Stanek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Dobrza\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Maksym-G\u0105siorek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wojciech","family":"Trzeciakowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Gutkowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Olczak-Kowalczyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Gajdulewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna","family":"Spodar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justyna","family":"Czech-Kowalska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Krajewska-Walasek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-3-20211004","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1007\/s00383-006-1637-4","article-title":"Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients","volume":"22","author":"Al-Mudaffer","year":"2006","journal-title":"Pediatr Surg Int"},{"key":"R2-3-20211004","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","year":"2006","journal-title":"Genet Couns"},{"key":"R4-3-20211004","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.ajhg.2007.09.014","article-title":"22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome","volume":"82","author":"Ben-Shachar","year":"2008","journal-title":"Am J Hum Genet"},{"key":"R5-3-20211004","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1002\/ajmg.a.31910","article-title":"Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? \u2013 Report of two families","volume":"146","author":"Courtens","year":"2008","journal-title":"Am J Med Genet A"},{"key":"R6-3-20211004","first-page":"4430","article-title":"A new case of a severe clinical phenotype of the cat-eye syndrome","volume":"15","author":"Denavit","year":"2004","journal-title":"Genet Couns"},{"key":"R7-3-20211004","first-page":"277","article-title":"31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings","volume":"18","author":"Engiz","year":"2007","journal-title":"Genet Couns"},{"key":"R8-3-20211004","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1086\/378818","article-title":"Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients","volume":"73","author":"Ensenauer","year":"2003","journal-title":"Am J Hum Genet"},{"key":"R9-3-20211004","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.ejmg.2006.01.005","article-title":"Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature","volume":"49","author":"Feenstra","year":"2006","journal-title":"Eur J Med Genet"},{"key":"R10-3-20211004","first-page":"237","article-title":"Ring 22 duplication\/deletion mosaicism: clinical, cytogenetic, and molecular characterisation","volume":"36","author":"Frizzley","year":"1999","journal-title":"J Med Genet"},{"key":"R11-3-20211004","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<300::AID-AJMG19>3.0.CO;2-O","article-title":"De novo direct duplication of chromosome segment 22q11.2-q13.1","volume":"62","author":"Fujimoto","year":"1996","journal-title":"Am J Med Genet"},{"key":"R13-3-20211004","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1136\/jmg.18.2.108","article-title":"The aetiology of the cat eye syndrome reconsidered","volume":"18","author":"Guanti","year":"1981","journal-title":"J Med Genet"},{"key":"R14-3-20211004","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/BF01694700","article-title":"Contributions to the congenital malformations of the eyes","volume":"24","author":"Haab","year":"1878","journal-title":"Arch Klein Exp Ophtalmol"},{"key":"R15-3-20211004","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1002\/ajmg.1320290423","article-title":"Multiple congenital anomaly\/mental retardation (MCA\/MR) syndrome with Goldenhar complex due to a terminal del(22q)","volume":"29","author":"Herman","year":"1988","journal-title":"Am J Med Genet"},{"key":"R16-3-20211004","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/humu.20640","article-title":"Detailed analysis of 22q11.2 with a high density MLPA probe set","volume":"29","author":"Jalali","year":"2008","journal-title":"Hum Mutat"},{"key":"R17-3-20211004","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/ajmg.1320550214","article-title":"Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome","volume":"55","author":"Knoll","year":"1995","journal-title":"Am J Med Genet"},{"key":"R18-3-20211004","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.1320460111","article-title":"Trisomy 22 and facioauriculovertebral (Goldenhar) sequence","volume":"46","author":"Kobrynski","year":"1993","journal-title":"Am J Med Genet"},{"key":"R19-3-20211004","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00439-006-0185-2","article-title":"A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the cat eye syndrome region may have no clinical relevance","volume":"120","author":"Kriek","year":"2006","journal-title":"Hum Genet"},{"key":"R20-3-20211004","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.1320560316","article-title":"De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization","volume":"56","author":"Lindsay","year":"1995","journal-title":"Am J Med Genet"},{"key":"R22-3-20211004","first-page":"667","article-title":"Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region","volume":"57","author":"Mears","year":"1995","journal-title":"Am J Hum Genet"},{"key":"R23-3-20211004","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1136\/jmg.40.5.e62","article-title":"Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome","volume":"40","author":"Meins","year":"2003","journal-title":"J Med Genet"},{"key":"R24-3-20211004","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.a.30847","article-title":"22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge\/velocardiofacial syndromes","volume":"137","author":"Portno\u00ef","year":"2005","journal-title":"Am J Med Genet A"},{"key":"R25-3-20211004","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/ajmg.1320590402","article-title":"Goldenhar sequence and mosaic trisomy 22","volume":"59","author":"Pridjian","year":"1995","journal-title":"Am J Med Genet"},{"key":"R26-3-20211004","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.1320200120","article-title":"Tandem duplication of proximal 22q: a cause of cat-eye syndrome","volume":"20","author":"Reiss","year":"1985","journal-title":"Am J Med Genet"},{"key":"R27-3-20211004","first-page":"273","article-title":"Phenotypic variability of the cat eye syndrome. Case report and review of the literature","volume":"12","author":"Rosias","year":"2001","journal-title":"Genet Couns"},{"key":"R28-3-20211004","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/S0140-6736(65)92415-3","article-title":"Chromosomes in coloboma and anal atresia","volume":"2","author":"Schachenmann","year":"1965","journal-title":"Lancet"},{"key":"R29-3-20211004","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/BF00282012","article-title":"The \u2018cat eye syndrome\u2019: dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture","volume":"57","author":"Schinzel","year":"1981","journal-title":"Hum Genet"},{"key":"R30-3-20211004","doi-asserted-by":"crossref","first-page":"2924","DOI":"10.1002\/ajmg.a.32101","article-title":"Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification","volume":"143A","author":"Stachon","year":"2007","journal-title":"Am J Med Genet A"},{"key":"R31-3-20211004","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/S0959-437X(02)00304-0","article-title":"Molecular-evolutionary mechanisms for genomic disorders","volume":"2","author":"Stankiewicz","year":"2002","journal-title":"Curr Opin Genet Dev1"},{"key":"R32-3-20211004","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s004310000646","article-title":"Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature","volume":"160","author":"Van den Elzen","year":"2001","journal-title":"Eur J Pediatr"},{"key":"R33-3-20211004","first-page":"211","article-title":"Complete trisomy 22","volume":"141","author":"Wollina","year":"1993","journal-title":"Monatsschr Kinderheilkd"},{"key":"R34-3-20211004","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1136\/jmg.34.1.79","article-title":"Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?","volume":"34","author":"Worthington","year":"1997","journal-title":"J Med Genet"},{"key":"R35-3-20211004","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1086\/429841","article-title":"Microduplication and triplication of 22q11.2: a highly variable syndrome","volume":"76","author":"Yobb","year":"2005","journal-title":"Am J Hum Genet"},{"key":"R36-3-20211004","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1399-0004.2007.00938.x","article-title":"Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication","volume":"73","author":"Yu","year":"2008","journal-title":"Clin Genet"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00019605-200901000-00003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,5]],"date-time":"2021-10-05T05:30:22Z","timestamp":1633411822000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019605-200901000-00003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0b013e328317c884","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2009,1]]}}}