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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- Published online on: February 6, 2014 https://doi.org/10.3892/etm.2014.1520
- Pages: 953-957
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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.
