Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy w...

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Detalles Bibliográficos
Autores principales: MANOLAKOS, EMMANOUIL, VETRO, ANNALISA, GARAS, ANTONIOS, THOMAIDIS, LORETTA, KEFALAS, KONSTANTINOS, KITSOS, GEORGE, ZIEGLER, MONIKA, LIEHR, THOMAS, ZUFFARDI, ORSETTA, PAPOULIDIS, IOANNIS
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964923/
https://www.ncbi.nlm.nih.gov/pubmed/24669257
http://dx.doi.org/10.3892/etm.2014.1520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964923/
https://www.ncbi.nlm.nih.gov/pubmed/24669257
http://dx.doi.org/10.3892/etm.2014.1520

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