TY - JOUR AB - 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. AD - Laboratory of Genetics, Eurogenetica S.A., Athens 11527, Greece Department of Human and Hereditary Pathology, University of Pavia, Pavia 27100, Italy Department of Gynecology, Larissa Medical School, University of Thessaly, Larissa 41335, Greece Developmental Assessment Unit, Second Department of Paediatrics, P&A Kyriakou Children's Hospital, University of Athens, Athens 11527, Greece Laboratory of Genetics, Bioiatriki S.A., Athens 11526, Greece Department of Ophthalmology, University of Ioannina, Ioannina 45110, Greece Institute of Human Genetics and Anthropology, Jena University Hospital, Jena D-07743, Germany AU - Manolakos,Emmanouil AU - Vetro,Annalisa AU - Garas,Antonios AU - Thomaidis,Loretta AU - Kefalas,Konstantinos AU - Kitsos,George AU - Ziegler,Monika AU - Liehr,Thomas AU - Zuffardi,Orsetta AU - Papoulidis,Ioannis DA - 2014/04/01 DO - 10.3892/etm.2014.1520 EP - 957 IS - 4 JO - Exp Ther Med KW - 10q duplication syndrome array-comparative genomic hybridization developmental delay 10q11.21→q11.22 PY - 2014 SN - 1792-0981 1792-1015 SP - 953 ST - Proximal 10q duplication in a child with severe central hypotonia characterized by array‑comparative genomic hybridization: A case report and review of the literature T2 - Experimental and Therapeutic Medicine 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 UR - https://doi.org/10.3892/etm.2014.1520 VL - 7 ER -