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Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

BACKGROUND: Maternally-derived duplications that include the imprinted region on the proximal long arm of chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for autism spectrum disorders[1]. The duplications most often tak...

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Detalles Bibliográficos
Autores principales: Wang, Nicholas J, Parokonny, Alexander S, Thatcher, Karen N, Driscoll, Jennette, Malone, Barbara M, Dorrani, Naghmeh, Sigman, Marian, LaSalle, Janine M, Schanen, N Carolyn
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2249594/
https://www.ncbi.nlm.nih.gov/pubmed/18177502
http://dx.doi.org/10.1186/1471-2156-9-2