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Bechwith-Wiedemann综合征(BMS)以先天性脐疝、巨去、巨人症、内脏增大及包括肾胚细胞瘤、肾上腺皮质癌、肝胚细胞瘤及横纹肌肉瘤、胚胎肿瘤高发为特征。虽然许多病例是散发的,但几个家系支持常染色体显性遗传,具有不完全外显率和各种表现度。在几个病例中看到11p部分三体有一个共同的11p15.5重复区域,通过连锁分析进一步证实家族性BWS定位于11p15.5。有意义的是肾胚细胞瘤和肾上腺皮质癌恶性增生的始动常和源于母方的11p等位基因缺失有
Bechwith-Wiedemann’s syndrome (BMS) is characterized by congenital umbilical hernia, giant goose, giant gigantism, enlarged glands, and includes, among others, nephroblastoma, adrenocortical carcinomas, hepatoblastomas and rhabdomyosarcomas, and high rates of embryonal tumors. Although many cases are elicited, several families support autosomal dominant inheritance with incomplete penetrance and various manifestations. In several cases, a partial 11p15.5 repeat region of the 11p partial trisomy was seen, further confirming that the familial BWS was located at 11p15.5 by linkage analysis. Of interest is the onset of primary and primary mother-derived 11p allele deletion in both neoplastic blastomas and adrenocortical carcinomas