dc.creator | Manolakos, E. | en |
dc.creator | Vetro, A. | en |
dc.creator | Garas, A. | en |
dc.creator | Thomaidis, L. | en |
dc.creator | Kefalas, K. | en |
dc.creator | Kitsos, G. | en |
dc.creator | Ziegler, M. | en |
dc.creator | Liehr, T. | en |
dc.creator | Zuffardi, O. | en |
dc.creator | Papoulidis, I. | en |
dc.date.accessioned | 2015-11-23T10:38:45Z | |
dc.date.available | 2015-11-23T10:38:45Z | |
dc.date.issued | 2014 | |
dc.identifier | 10.3892/etm.2014.1520 | |
dc.identifier.issn | 1792-0981 | |
dc.identifier.uri | http://hdl.handle.net/11615/30648 | |
dc.description.abstract | 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 with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21 -> q11.22, which was characterized by the array-comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions. | en |
dc.source.uri | <Go to ISI>://WOS:000334299200035 | |
dc.subject | developmental delay | en |
dc.subject | 10q11.21 -> q11.22 | en |
dc.subject | 10q duplication syndrome | en |
dc.subject | array-comparative genomic hybridization | en |
dc.subject | TRISOMY 10Q | en |
dc.subject | PHENOTYPE | en |
dc.subject | Medicine, Research & Experimental | en |
dc.title | Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature | en |
dc.type | journalArticle | en |