Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

BACKGROUND: The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering to pieces and rebuilding of chromosomes in a random order. Congenital chromothri...

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Détails bibliographiques
Publié dans:Mol Cytogenet
Auteurs principaux: Genesio, Rita, Fontana, Paolo, Mormile, Angela, Casertano, Alberto, Falco, Mariateresa, Conti, Anna, Franzese, Adriana, Mozzillo, Enza, Nitsch, Lucio, Melis, Daniela
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4683855/
https://ncbi.nlm.nih.gov/pubmed/26689541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0199-3
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