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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Detalles Bibliográficos
Autores principales: Roberti, Maria Cristina, Surace, Cecilia, Digilio, Maria Cristina, D'Elia, Gemma, Sirleto, Pietro, Capolino, Rossella, Lombardo, Antonietta, Tomaiuolo, Anna Cristina, Petrocchi, Stefano, Angioni, Adriano
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096895/
https://www.ncbi.nlm.nih.gov/pubmed/21504564
http://dx.doi.org/10.1186/1750-1172-6-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096895/
https://www.ncbi.nlm.nih.gov/pubmed/21504564
http://dx.doi.org/10.1186/1750-1172-6-17

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