{"title":"呼吸困难、咳嗽症状与染色体失衡的关系","authors":"O. Demirhan, S. Kuleci, Oya Baydar","doi":"10.15761/ccsr.1000119","DOIUrl":null,"url":null,"abstract":"Objectives: Genetic instability is one of the basic reasons for the survival. In this study, a very high genetic imbalance that is inconsistent with cough and life can not be explained with our current genetic information. Materials and methods: We performed cytogenetic analysis by G-banding in an adult girl, aged 23 years, with hundreds of chromosomal abnormalities (CAs). While she has been evaluating for diffuse parenchymal lung disease (DPLD), was considered to have a possible genetic disorder. Results: We observed that there was at least one or more structural and/or numerical CAs in a cell of a person. The numerical and structural aberrations were found in 94.3% of cells analyzed. These CAs were a very serious and very important genetic instability. However, these hundreds of CAs had reflected to clinic appearence with the symptom of dyspnea, cough for the last 5 months, atypical facial and growth retardation. Conclusion: There is a relationship between chromosome damage and symptoms of dyspnea, cough. We are in an inappropriate situation with normal mitosis. It needs to be investigated and explained. *Correspondence to: Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı-Adana, Turkey, Tel: 903223387140, Fax: 90-322-3386572, E-mail: osdemir@cu.edu.tr","PeriodicalId":10345,"journal":{"name":"Clinical Case Studies and Reports","volume":"144 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Relationship between symptoms of dyspnea, cough and chromosomal imbalance\",\"authors\":\"O. Demirhan, S. Kuleci, Oya Baydar\",\"doi\":\"10.15761/ccsr.1000119\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Objectives: Genetic instability is one of the basic reasons for the survival. In this study, a very high genetic imbalance that is inconsistent with cough and life can not be explained with our current genetic information. Materials and methods: We performed cytogenetic analysis by G-banding in an adult girl, aged 23 years, with hundreds of chromosomal abnormalities (CAs). While she has been evaluating for diffuse parenchymal lung disease (DPLD), was considered to have a possible genetic disorder. Results: We observed that there was at least one or more structural and/or numerical CAs in a cell of a person. The numerical and structural aberrations were found in 94.3% of cells analyzed. These CAs were a very serious and very important genetic instability. However, these hundreds of CAs had reflected to clinic appearence with the symptom of dyspnea, cough for the last 5 months, atypical facial and growth retardation. Conclusion: There is a relationship between chromosome damage and symptoms of dyspnea, cough. We are in an inappropriate situation with normal mitosis. It needs to be investigated and explained. *Correspondence to: Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı-Adana, Turkey, Tel: 903223387140, Fax: 90-322-3386572, E-mail: osdemir@cu.edu.tr\",\"PeriodicalId\":10345,\"journal\":{\"name\":\"Clinical Case Studies and Reports\",\"volume\":\"144 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Case Studies and Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15761/ccsr.1000119\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Case Studies and Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15761/ccsr.1000119","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Relationship between symptoms of dyspnea, cough and chromosomal imbalance
Objectives: Genetic instability is one of the basic reasons for the survival. In this study, a very high genetic imbalance that is inconsistent with cough and life can not be explained with our current genetic information. Materials and methods: We performed cytogenetic analysis by G-banding in an adult girl, aged 23 years, with hundreds of chromosomal abnormalities (CAs). While she has been evaluating for diffuse parenchymal lung disease (DPLD), was considered to have a possible genetic disorder. Results: We observed that there was at least one or more structural and/or numerical CAs in a cell of a person. The numerical and structural aberrations were found in 94.3% of cells analyzed. These CAs were a very serious and very important genetic instability. However, these hundreds of CAs had reflected to clinic appearence with the symptom of dyspnea, cough for the last 5 months, atypical facial and growth retardation. Conclusion: There is a relationship between chromosome damage and symptoms of dyspnea, cough. We are in an inappropriate situation with normal mitosis. It needs to be investigated and explained. *Correspondence to: Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı-Adana, Turkey, Tel: 903223387140, Fax: 90-322-3386572, E-mail: osdemir@cu.edu.tr