...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Sao Paulo Medical Journal >Beckwith-Wiedemann syndrome and isolated hemihyperplasia
【24h】

Beckwith-Wiedemann syndrome and isolated hemihyperplasia

机译：Beckwith-Wiedemann综合征和孤立的半定量增生

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

CONTEXT: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of Beckwith-Wiedemann syndrome. OBJECTIVES: A clinical and molecular review and proposal of the use of an experimental protocol to provide a practical approach for the physician. DATA SYNTHESIS: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and the candidate genes. To our knowledge, this is the first Brazilian protocol for research into these disorders. The results have been used at the Faculdade de Medicina de Ribeir?o Preto, Universidade de S?o Paulo, to elucidate the basis of Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and have been applied at the Hospital Universitário of the Faculdade de Medicina. CONCLUSIONS: Elucidation of the etiological mechanisms and use of a laboratory protocol to detect alterations in these disorders may be useful for guiding the management of such patients and genetic counseling of the families.
机译：语境：Beckwith-Wiedemann综合征是一种复杂且异质的过度生长综合征，具有遗传和表观遗传学改变，涉及基因组印记和癌症易感性。孤立的半身增生的病因不明，可能代表Beckwith-Wiedemann综合征的部分或不完整表达。目的：进行临床和分子检查，并提出使用实验方案为医师提供实用方法的建议。数据综合：这项审查表明遗传和表观遗传机制参与贝克威斯韦德曼综合征和孤立的半身不典型增生，以及候选基因。据我们所知，这是巴西第一个研究这些疾病的方案。该结果已在圣保罗大学的里克贝雷德·普雷图医学院的研究中阐明了贝克威斯－维德曼综合症和孤立的半定量增生的基础，并已在梅里奇纳大学的大学医院得到了应用。结论：阐明病因机制和使用实验室规程以检测这些疾病的改变可能对指导此类患者的治疗和家庭遗传咨询有用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号