@article{3001698,
    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",
    author = "Manolakos, E. and Vetro, A. and Garas, A. and Thomaidis, L. and Kefalas, K. and Kitsos, G. and Ziegler, M. and Liehr, T. and Zuffardi, O. and Papoulidis, I.",
    journal = "Experimental and Therapeutic Medicine",
    year = "2014",
    volume = "7",
    number = "4",
    pages = "953-957",
    issn = "1792-0981, 1792-1015",
    doi = "10.3892/etm.2014.1520",
    keywords = "article;  case report;  child;  comparative genomic hybridization;  corpus callosum agenesis;  cryptorchism;  cytogenetics;  face malformation;  fluorescence in situ hybridization;  genetic disorder;  human;  karyotyping;  male;  muscle hypotonia;  nuclear magnetic resonance imaging;  physiotherapy;  preschool child;  proximal 10q duplication;  rating scale;  speech therapy",
    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."
}