Proximal 10q duplication in a child with severe central hypotonia characterized by array‑comparative genomic hybridization: A case report and review of the literature

Manolakos,Emmanouil; Vetro,Annalisa; Garas,Antonios; Thomaidis,Loretta; Kefalas,Konstantinos; Kitsos,George; Ziegler,Monika; Liehr,Thomas; Zuffardi,Orsetta; Papoulidis,Ioannis

doi:10.3892/etm.2014.1520

2014-April Volume 7 Issue 4

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2014-April Volume 7 Issue 4

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Case Report

Proximal 10q duplication in a child with severe central hypotonia characterized by array‑comparative genomic hybridization: A case report and review of the literature

Authors:
- Emmanouil Manolakos
- Annalisa Vetro
- Antonios Garas
- Loretta Thomaidis
- Konstantinos Kefalas
- George Kitsos
- Monika Ziegler
- Thomas Liehr
- Orsetta Zuffardi
- Ioannis Papoulidis
View Affiliations / Copyright

Affiliations: 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
Pages: 953-957
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Published online on: February 6, 2014

https://doi.org/10.3892/etm.2014.1520
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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.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Proximal 10q duplication in a child with severe central hypotonia characterized by array‑comparative genomic hybridization: A case report and review of the literature

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