...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genetics and Molecular Research >Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities
【24h】

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities

机译：Prader-Willi样表型：染色体异常的系统评价

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

摘要

Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on. The syndrome has a clinical overlap with other diseases, which makes it difficult to accurately diagnose. The purpose of this article is to review the Prader-Willi-like phenotype in the scientific literature from 2000 to 2013, i.e., to review the cases of PWS caused by chromosomal abnormalities different from those found on chromosome 15. A search was carried out using the “National Center for Biotechnology Information” (www.pubmed.com) and “Scientific Electronic Library Online (www.scielo.br) databases and combinations of key words such as “Prader-Willi-like phenotype” and “Prader-Willi syndrome phenotype”. Editorials, letters, reviews, and guidelines were excluded. Articles chosen contained descriptions of patients diagnosed with the PWS phenotype but who were negative for alterations on 15q11-q13. Our search found 643 articles about PWS, but only 14 of these matched with the Prader-Willi-like phenotype and with the selected years of publication (2000-2013). If two or more articles reported the same chromosomal alterations for Prader-Willi-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports and 2 reported series of cases.
机译：Prader-Willi综合征（PWS）是由位于父本染色体15q11-q13上的基因表达不足引起的。基因表达的缺乏可能是由于该染色体片段的缺失，15号染色体的母亲单亲二体性或15q11-q13印迹中心的缺陷所致。 PWS的特征在于新生儿期和儿童期的肌张力低下，并伴有神经精神运动发育的延迟。暴饮暴食，肥胖和精神缺乏症随后出现。该综合征与其他疾病在临床上有重叠之处，因此难以准确诊断。本文的目的是回顾2000年至2013年科学文献中的Prader-Willi样表型，即回顾由不同于15号染色体的染色体异常引起的PWS病例。 “国家生物技术信息中心”（www.pubmed.com）和“在线科学电子图书馆”（www.scielo.br）数据库以及诸如“普拉德-威利类表型”和“普拉德-威利综合症”等关键词的组合表型”。社论，信件，评论和指南不包括在内。所选文章包含对诊断为PWS表型但对15q11-q13的改变呈阴性的患者的描述。我们的搜索发现了643篇有关PWS的文章，但其中只有14篇与Prader-Willi类表型和选定的出版年限（2000-2013）相匹配。如果有两篇或以上的文章报道了Prader-Willi样表型的相同染色体改变，则选择最新的。 12篇文章（共14篇）是病例报告，2篇报道了系列病例。

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