Delabar Jean Maurice, Aflalo-Rattenbac Revital, Créau Nicole
EA3508, Université Denis Diderot--Paris 7, 2 place Jussieu 75251 Paris Cedex 05, France.
ScientificWorldJournal. 2006 Sep 19;6:1945-64. doi: 10.1100/tsw.2006.322.
Aneuploidies have diverse phenotypic consequences, ranging from mental retardation and developmental abnormalities to susceptibility to common phenotypes and various neoplasms. This review focuses on the developmental defects of murine models of a prototype human aneuploidy: trisomy 21 (Down syndrome, DS, T21). Murine models are clearly the best tool for dissecting the phenotypic consequences of imbalances that affect single genes or chromosome segments. Embryos can be studied freely in mice, making murine models particularly useful for the characterization of developmental abnormalities. This review describes the main phenotypic alterations occurring during the development of patients with T21 and the developmental abnormalities observed in mouse models, and investigates phenotypes common to both species.
非整倍体具有多种表型后果，从智力迟钝、发育异常到常见表型易感性和各种肿瘤。本综述重点关注一种典型人类非整倍体——21三体（唐氏综合征，DS，T21）小鼠模型的发育缺陷。小鼠模型显然是剖析影响单个基因或染色体片段的失衡所导致表型后果的最佳工具。在小鼠中可以自由研究胚胎，这使得小鼠模型对于表征发育异常特别有用。本综述描述了T21患者发育过程中发生的主要表型改变以及在小鼠模型中观察到的发育异常，并研究了两种物种共有的表型。
