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High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

Maternally derived duplication of the imprinted region of chromosome 15q11-q14 leads to a complex neurobehavioral phenotype that often includes autism, cognitive deficits, and seizures. Multiple repeat elements within the region mediate a variety of rearrangements, including interstitial duplication...

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Detalhes bibliográficos
Main Authors: Wang, Nicholas J., Liu, Dahai, Parokonny, Alexander S., Schanen, N. Carolyn
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1216061/
https://ncbi.nlm.nih.gov/pubmed/15197683
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