T Lukusa, G Van Buggenhout, K Devriendt, J Meireleire, G Van Goethem, L Roelen, J P Fryns
{"title":"在纯1q部分三体的成年男性患者中,颧突是最显著的生理异常。","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":"{\"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}","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}
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
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).