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%.

Detalles Bibliográficos
Autores principales: Hervé, Bérénice, Quibel, Thibaud, Taieb, Stéphane, Ruiz, Mireille, Molina-Gomes, Denise, Vialard, François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
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
Descripción
Sumario: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%.

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