Li M, Squire J A, Weksberg R
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Curr Opin Pediatr. 1997 Dec;9(6):623-9. doi: 10.1097/00008480-199712000-00012.
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder characterized by developmental anomalies, tissue and organ hyperplasia, and an increased risk of embryonal tumors. BWS is a multigenic disorder with dysregulation of the expression of imprinted genes involved in growth and cell cycle control in the 11p15 chromosomal region. The molecular genetics appear to involve either mutations of imprinted genes or chromosomal alterations of a putative imprinting center that controls gene expression across a large chromosomal domain. As the molecular genetics underlying BWS are unraveled, our knowledge of this imprinting disorder and its relationship to neoplasia and developmental anomalies will be expanded. Currently available diagnostic testing and follow-up protocols will evolve as our understanding of the molecular basis of this disease progresses.
贝克威思-维德曼综合征（BWS）是一种过度生长紊乱疾病，其特征为发育异常、组织和器官增生以及胚胎性肿瘤风险增加。BWS是一种多基因疾病，11p15染色体区域中参与生长和细胞周期调控的印记基因表达失调。分子遗传学似乎涉及印记基因的突变或控制大片染色体区域基因表达的假定印记中心的染色体改变。随着BWS潜在分子遗传学机制的揭示，我们对这种印记障碍及其与肿瘤形成和发育异常关系的认识将会扩展。随着我们对该疾病分子基础理解的深入，目前可用的诊断检测和随访方案也将不断发展。
