T Lukusa, G Van Buggenhout, K Devriendt, J Meireleire, G Van Goethem, L Roelen, J P Fryns
{"title":"Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.","authors":"T Lukusa, G Van Buggenhout, K Devriendt, J Meireleire, G Van Goethem, L Roelen, J P Fryns","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a \"de novo\" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 4","pages":"199-204"},"PeriodicalIF":0.0000,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de genetique","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a "de novo" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).