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.
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.
authors.affiliation: Laboratory of Genetics, Eurogenetica S.A., Athens 11527, Greece.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
authors.affiliation: Department of Human and Hereditary Pathology, University of Pavia, Pavia 27100, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.affiliation: Department of Gynecology, Larissa Medical School, University of Thessaly, Larissa 41335, Greece.
authors.forename: Antonios
authors.initials: A
authors.lastname: Garas
authors.affiliation: Developmental Assessment Unit, Second Department of Paediatrics, P&A Kyriakou Children's Hospital, University of Athens, Athens 11527, Greece.
authors.forename: Loretta
authors.initials: L
authors.lastname: Thomaidis
authors.affiliation: Laboratory of Genetics, Bioiatriki S.A., Athens 11526, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kefalas
authors.affiliation: Department of Ophthalmology, University of Ioannina, Ioannina 45110, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Kitsos
authors.affiliation: Institute of Human Genetics and Anthropology, Jena University Hospital, Jena D-07743, Germany.
authors.forename: Monika
authors.initials: M
authors.lastname: Ziegler
authors.affiliation: Institute of Human Genetics and Anthropology, Jena University Hospital, Jena D-07743, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Department of Human and Hereditary Pathology, University of Pavia, Pavia 27100, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.affiliation: Laboratory of Genetics, Eurogenetica S.A., Athens 11527, Greece.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papoulidis
keywords: 10q duplication syndrome; 10q11.21→q11.22; array-comparative genomic hybridization; developmental delay