Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

BACKGROUND: Chromothripsis, which is the local massive shattering of one or more chromosomes and their reassembly in a disordered array with frequent loss of some fragments, has been mainly reported in association with abnormal phenotypes. We report three unrelated healthy persons, two of which pare...

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Detalles Bibliográficos
Autores principales: Kurtas, Nehir Edibe, Xumerle, Luciano, Giussani, Ursula, Pansa, Alessandra, Cardarelli, Laura, Bertini, Veronica, Valetto, Angelo, Liehr, Thomas, Clara Bonaglia, Maria, Errichiello, Edoardo, Delledonne, Massimo, Zuffardi, Orsetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393660/
https://www.ncbi.nlm.nih.gov/pubmed/30565424
http://dx.doi.org/10.1002/mgg3.496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393660/
https://www.ncbi.nlm.nih.gov/pubmed/30565424
http://dx.doi.org/10.1002/mgg3.496

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