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Are de novo rea(21;21) chromosomes really de novo?
We report a rare case of recurrent trisomy 21 caused by an isochromosome 21q and what is very likely to be maternal germ-line cell mosaicism. Over 90% of cases of rob(21;21) reported in the literature are due to an isochromosome 21q, with a risk of recurrence of more than 10%.
Autores principales: | Hervé, Bérénice, Quibel, Thibaud, Taieb, Stéphane, Ruiz, Mireille, Molina-Gomes, Denise, Vialard, François |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614639/ https://www.ncbi.nlm.nih.gov/pubmed/26509006 http://dx.doi.org/10.1002/ccr3.341 |
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