{"title":"重复10q综合征:一例新病例","authors":"Olgu Sunumu, A. Karaman, T. Tos","doi":"10.5222/J.GOZTEPETRH.2013.055","DOIUrl":null,"url":null,"abstract":"SUMMARY Partial trisomy of the long arm of chromosome 10 is a welldefined but rare syndrome. Growth retardation, developmental delay and characteristic dysmorphic features are well described in the syndrome. The case had the well characterized phenotype of microcephaly, characteristic dysmorphic facies and limb anomalies. Trisomy in the case involved the 10q25-->qter region.","PeriodicalId":312011,"journal":{"name":"The Medical Journal of Goztepe Training and Research Hospital","volume":"32 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2013-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Duplication 10q syndrome: A new case\",\"authors\":\"Olgu Sunumu, A. Karaman, T. Tos\",\"doi\":\"10.5222/J.GOZTEPETRH.2013.055\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"SUMMARY Partial trisomy of the long arm of chromosome 10 is a welldefined but rare syndrome. Growth retardation, developmental delay and characteristic dysmorphic features are well described in the syndrome. The case had the well characterized phenotype of microcephaly, characteristic dysmorphic facies and limb anomalies. Trisomy in the case involved the 10q25-->qter region.\",\"PeriodicalId\":312011,\"journal\":{\"name\":\"The Medical Journal of Goztepe Training and Research Hospital\",\"volume\":\"32 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2013-06-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Medical Journal of Goztepe Training and Research Hospital\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5222/J.GOZTEPETRH.2013.055\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Medical Journal of Goztepe Training and Research Hospital","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5222/J.GOZTEPETRH.2013.055","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
SUMMARY Partial trisomy of the long arm of chromosome 10 is a welldefined but rare syndrome. Growth retardation, developmental delay and characteristic dysmorphic features are well described in the syndrome. The case had the well characterized phenotype of microcephaly, characteristic dysmorphic facies and limb anomalies. Trisomy in the case involved the 10q25-->qter region.
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