Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
Eur J Hum Genet. 2019 Sep;27(9):1326-1340. doi: 10.1038/s41431-019-0435-0. Epub 2019 Jun 24.
This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. It highlights the advantages and disadvantages of each method and moreover, is meant to facilitate the interpretation of the obtained results - leading to improved standardised reports.
本文是 2010 年发表在《BMC 医学遗传学》(1)上的《普拉德-威利和安格曼综合征分子分析最佳实践指南》的更新版。本次更新考虑了技术、鉴别诊断方面的进展(尤其是报告标准)。它突出了每种方法的优缺点,而且,旨在促进对获得的结果的解释——从而提高标准化报告的质量。