{"title":"简短的临床报告:1例新发部分9p单体。","authors":"E Nagy, M Bod, I Nemeth, L Timar","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>A female patient is described with a karyotype 46,XX,del (9) (p22) showing characteristic dysmorphic phenotype: trigonocephaly, prominent forehead, long philtrum, small mouth, high arched palate, low set ears, short neck, widely spaced nipples, long fingers and toes, omphalocele. The first Hungarian case of 9p monosomy syndrome is reported here.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 4","pages":"407-13"},"PeriodicalIF":0.0000,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Short clinical report: a new case with de novo partial 9p monosomy.\",\"authors\":\"E Nagy, M Bod, I Nemeth, L Timar\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A female patient is described with a karyotype 46,XX,del (9) (p22) showing characteristic dysmorphic phenotype: trigonocephaly, prominent forehead, long philtrum, small mouth, high arched palate, low set ears, short neck, widely spaced nipples, long fingers and toes, omphalocele. The first Hungarian case of 9p monosomy syndrome is reported here.</p>\",\"PeriodicalId\":76974,\"journal\":{\"name\":\"Acta paediatrica Hungarica\",\"volume\":\"31 4\",\"pages\":\"407-13\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1991-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta paediatrica Hungarica\",\"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":"Acta paediatrica Hungarica","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Short clinical report: a new case with de novo partial 9p monosomy.
A female patient is described with a karyotype 46,XX,del (9) (p22) showing characteristic dysmorphic phenotype: trigonocephaly, prominent forehead, long philtrum, small mouth, high arched palate, low set ears, short neck, widely spaced nipples, long fingers and toes, omphalocele. The first Hungarian case of 9p monosomy syndrome is reported here.
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