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
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author Hervé, Bérénice
Quibel, Thibaud
Taieb, Stéphane
Ruiz, Mireille
Molina-Gomes, Denise
Vialard, François
author_facet Hervé, Bérénice
Quibel, Thibaud
Taieb, Stéphane
Ruiz, Mireille
Molina-Gomes, Denise
Vialard, François
author_sort Hervé, Bérénice
collection PubMed
description 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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spelling pubmed-46146392015-10-27 Are de novo rea(21;21) chromosomes really de novo? Hervé, Bérénice Quibel, Thibaud Taieb, Stéphane Ruiz, Mireille Molina-Gomes, Denise Vialard, François Clin Case Rep Case Reports 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%. John Wiley & Sons, Ltd 2015-10 2015-08-26 /pmc/articles/PMC4614639/ /pubmed/26509006 http://dx.doi.org/10.1002/ccr3.341 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Hervé, Bérénice
Quibel, Thibaud
Taieb, Stéphane
Ruiz, Mireille
Molina-Gomes, Denise
Vialard, François
Are de novo rea(21;21) chromosomes really de novo?
title Are de novo rea(21;21) chromosomes really de novo?
title_full Are de novo rea(21;21) chromosomes really de novo?
title_fullStr Are de novo rea(21;21) chromosomes really de novo?
title_full_unstemmed Are de novo rea(21;21) chromosomes really de novo?
title_short Are de novo rea(21;21) chromosomes really de novo?
title_sort are de novo rea(21;21) chromosomes really de novo?
topic Case Reports
url 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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