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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)953-957
Number of pages5
JournalExperimental and Therapeutic Medicine
Volume7
Issue number4
DOIs
Publication statusPublished - Apr 2014

Keywords

  • 10q duplication syndrome
  • 10q11.21→q11.22
  • Array-comparative genomic hybridization
  • Developmental delay

ASJC Scopus subject areas

  • Medicine(all)
  • Cancer Research
  • Immunology and Microbiology (miscellaneous)

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