期刊
JOURNAL OF MEDICAL GENETICS
卷 48, 期 3, 页码 212-216出版社
B M J PUBLISHING GROUP
DOI: 10.1136/jmg.2010.081919
关键词
-
资金
- FIBHULP
- FIS [08/1360]
Molecular studies in a patient with Beckwith-Wiedemann syndrome phenotype who developed two different tumours revealed an unexpected observation of almost complete loss of heterozygosity of all chromosomes. It is shown, by means of numerous molecular methods, that the absence of maternal contribution in somatic cells is due to high-degree (similar to 85%) genome-wide paternal uniparental disomy (UPD). The observations indicate that the genome-wide UPD results from diploidisation, and have important implications for genetic counselling and tumour surveillance for the growing number of UPD associated imprinting disorders.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据