TY - JOUR
TI - Proximal 10q duplication in a child with severe central hypotonia characterized by array- comparative genomic hybridization: A case report and review of the literature
AU - Manolakos, E.
AU - Vetro, A.
AU - Garas, A.
AU - Thomaidis, L.
AU - Kefalas, K.
AU - Kitsos, G.
AU - Ziegler, M.
AU - Liehr, T.
AU - Zuffardi, O.
AU - Papoulidis, I.
JO - Experimental and Therapeutic Medicine
PY - 2014
VL - 7
TODO - 4
SP - 953-957
PB - 
SN - 1792-0981, 1792-1015
TODO - 10.3892/etm.2014.1520
TODO - 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
TODO - 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.
ER -