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Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
BACKGROUND: Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported. CASE PRESENTATION: Here we reported a case of concomita...
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| Veröffentlicht in: | Mol Cytogenet |
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| Hauptverfasser: | , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4995659/ https://ncbi.nlm.nih.gov/pubmed/27559361 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0274-4 |
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