Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. Th...

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Autors principals: Roberti, Maria Cristina, Surace, Cecilia, Digilio, Maria Cristina, D'Elia, Gemma, Sirleto, Pietro, Capolino, Rossella, Lombardo, Antonietta, Tomaiuolo, Anna Cristina, Petrocchi, Stefano, Angioni, Adriano
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3096895/
https://ncbi.nlm.nih.gov/pubmed/21504564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-17
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