{"title":"外周血罕见染色体畸变的临床特点及遗传学分析","authors":"Sheng-xiang Chen, Li Liu, Han-wen Wu","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To investigate the main clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood.</p><p><strong>Methods: </strong>Peripheral blood cells were cultured for 72 hours with routine method and slids performed, and then the slide was read and mode analysis was carried out. The diagnostic standard of rare chromosomal aberation was: 1-2 abnormal kary types were found in every 30, 60, 200 mitotic phass.</p><p><strong>Results: </strong>The main clinical characteristics of 52 cases of individual chromosomal aberation in peripheral blood included: 1. spontaneous abortion; 2. abnormal sex development; 3. reproduction diseases; and 4. morbid and deformity.</p><p><strong>Conclusion: </strong>Rare chromosomal aberation should be regarded as chromosomal diseases. Prenatal diagnosis is necessary for people with such chromosomal aberation in their reproductive actions.</p>","PeriodicalId":13115,"journal":{"name":"Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University","volume":"28 4","pages":"375-8"},"PeriodicalIF":0.0000,"publicationDate":"2003-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood].\",\"authors\":\"Sheng-xiang Chen, Li Liu, Han-wen Wu\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To investigate the main clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood.</p><p><strong>Methods: </strong>Peripheral blood cells were cultured for 72 hours with routine method and slids performed, and then the slide was read and mode analysis was carried out. The diagnostic standard of rare chromosomal aberation was: 1-2 abnormal kary types were found in every 30, 60, 200 mitotic phass.</p><p><strong>Results: </strong>The main clinical characteristics of 52 cases of individual chromosomal aberation in peripheral blood included: 1. spontaneous abortion; 2. abnormal sex development; 3. reproduction diseases; and 4. morbid and deformity.</p><p><strong>Conclusion: </strong>Rare chromosomal aberation should be regarded as chromosomal diseases. Prenatal diagnosis is necessary for people with such chromosomal aberation in their reproductive actions.</p>\",\"PeriodicalId\":13115,\"journal\":{\"name\":\"Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University\",\"volume\":\"28 4\",\"pages\":\"375-8\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2003-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University\",\"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":"Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[Clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood].
Objective: To investigate the main clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood.
Methods: Peripheral blood cells were cultured for 72 hours with routine method and slids performed, and then the slide was read and mode analysis was carried out. The diagnostic standard of rare chromosomal aberation was: 1-2 abnormal kary types were found in every 30, 60, 200 mitotic phass.
Results: The main clinical characteristics of 52 cases of individual chromosomal aberation in peripheral blood included: 1. spontaneous abortion; 2. abnormal sex development; 3. reproduction diseases; and 4. morbid and deformity.
Conclusion: Rare chromosomal aberation should be regarded as chromosomal diseases. Prenatal diagnosis is necessary for people with such chromosomal aberation in their reproductive actions.
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