{"title":"荧光原位杂交分析了15号和18号染色体新生不平衡易位导致的18q11.2→qter部分三体","authors":"C.Nur Semerci , Muhterem Bahce , Fatih Atik , Zuhal Candemir , Isıl Kucun Kiraz , Pelin Zorlu , Davut Gül","doi":"10.1016/j.anngen.2004.03.009","DOIUrl":null,"url":null,"abstract":"<div><p>This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases’ had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 4","pages":"Pages 393-398"},"PeriodicalIF":0.0000,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.009","citationCount":"1","resultStr":"{\"title\":\"Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization\",\"authors\":\"C.Nur Semerci , Muhterem Bahce , Fatih Atik , Zuhal Candemir , Isıl Kucun Kiraz , Pelin Zorlu , Davut Gül\",\"doi\":\"10.1016/j.anngen.2004.03.009\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases’ had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":\"47 4\",\"pages\":\"Pages 393-398\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2004-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.009\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003399504000371\",\"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 Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399504000371","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases’ had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.
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