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Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader–Willi‐like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report...
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| 格式: | Artigo |
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| 語言: | en |
| 出版: |
John Wiley and Sons Inc.
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4771849/ https://ncbi.nlm.nih.gov/pubmed/27014449 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.501 |
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