Deletions in chromosome 6p22.3-p24.3, including <it>ATXN1</it>, are associated with developmental delay and autism spectrum disorders

<p>Abstract</p> <p>Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP)...

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Detalhes bibliográficos
Main Authors: Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2012-04-01
Colecção:Molecular Cytogenetics
Assuntos:
6p deletions
Copy-number variants
Array comparative genomic hybridization
Acesso em linha:http://www.molecularcytogenetics.org/content/5/1/17
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