Koufos A, Hansen M F, Copeland N G, Jenkins N A, Lampkin B C, Cavenee W K
Nature. 1985;316(6026):330-4. doi: 10.1038/316330a0.
Children with the Beckwith-Wiedemann syndrome have a greatly increased potential for the specific development of the embryonal tumours hepatoblastoma, rhabdomyosarcoma and Wilms' tumour. Data obtained with molecular probes suggest that the association between these disparate, rare tumour types reflects a common pathogenetic mechanism that entails the somatic development of homozygosity for a mutant allele at a locus on human chromosome 11.
患有贝克威思-维德曼综合征的儿童发生胚胎性肿瘤(肝母细胞瘤、横纹肌肉瘤和肾母细胞瘤)的特定风险大幅增加。分子探针检测所获数据表明,这些不同的罕见肿瘤类型之间的关联反映了一种共同的致病机制,即人类11号染色体上某一位点的突变等位基因纯合性的体细胞发育过程。