唐氏综合征表型变异性的基因组决定因素。
Genomic determinants in the phenotypic variability of Down syndrome.
机构信息
Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, and iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland.
出版信息
Prog Brain Res. 2012;197:15-28. doi: 10.1016/B978-0-444-54299-1.00002-9.
Abstract
Down syndrome caused by trisomy 21 is a collection of phenotypes with variable expressivity and penetrance. The significant advances in exploring the human genome now provide the tools to better understand the contribution of trisomy 21 in the different manifestations of Down syndrome, and the functional links between the genome variability and the phenotypic variability.
摘要
唐氏综合征由 21 三体引起，是一组具有不同表现度和外显率的表型集合。人类基因组探索的显著进展，为更好地理解 21 三体在唐氏综合征不同表现中的作用，以及基因组变异与表型变异之间的功能联系，提供了工具。
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