Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism
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 contributio...
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| Main Authors: | , , , , , , , , , , , , , , , , , |
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| 格式: | Artigo |
| 语言: | 英语 |
| 出版: |
2010
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| 在线阅读: | https://doi.org/10.1136/jmg.2010.081919 |
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