呼吸困难、咳嗽症状与染色体失衡的关系

O. Demirhan, S. Kuleci, Oya Baydar
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摘要

目的:遗传不稳定性是人类生存的基本原因之一。在这项研究中,与咳嗽和生命不一致的非常高的遗传不平衡无法用我们目前的遗传信息来解释。材料和方法:我们对一位23岁的成年女孩进行了g带细胞遗传学分析,她有数百个染色体异常(CAs)。虽然她一直在评估弥漫性肺实质疾病(DPLD),但被认为可能有遗传疾病。结果:我们观察到在一个人的细胞中至少有一个或多个结构和/或数值ca。94.3%的细胞有数值畸变和结构畸变。这些ca是非常严重和非常重要的遗传不稳定性。然而,这数百例ca反映到临床表现为呼吸困难,咳嗽近5个月,不典型面部和生长迟缓。结论:染色体损伤与呼吸困难、咳嗽症状有关。我们处于正常有丝分裂不合适的情况。这需要调查和解释。*通讯对象:土耳其Çukurova大学医学院医学生物与遗传学系Osman Demirhan, 01330 Balcalı-Adana,电话:903223387140,传真:90-322-3386572,电子邮件:osdemir@cu.edu.tr
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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
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