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Clinical Corner: Case Report

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype

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Pages 398-402 | Received 03 Mar 2015, Accepted 17 May 2015, Published online: 13 Aug 2015

Figures & data

Figure 1. Conventional and FISH cytogenetic findings. (a) A QFQ banded metaphase spread showing the supernumerary small marker chromosome (indicated). (b) FISH on metaphase spread using CEP 10 probe (white [green]), showing the both chromosomes 10, and the smaller sSMC. FISH: fluorescence in situ hybridization.

Figure 1. Conventional and FISH cytogenetic findings. (a) A QFQ banded metaphase spread showing the supernumerary small marker chromosome (indicated). (b) FISH on metaphase spread using CEP 10 probe (white [green]), showing the both chromosomes 10, and the smaller sSMC. FISH: fluorescence in situ hybridization.

Figure 2. Cytogenetic and clinical summary of patients with marker chromosome 10 described in the literature. Representation of the approximate breakpoints/genetic content of the reported sSMC(10) cases and of our case with or without clinical symptoms and with a sufficient cytogenetic characterization. Light gray (green) squares correspond to reported sSMC(10) without clinical symptoms and dark gray (red) squares to reported sSMC(10) associated with clinical findings. Breakpoints’ representation is approximated. L: lymphocytes; F: fibroblasts; NEO: neocentromere; AFC: amniotic fluid cells; CVS: chroinic villi sampling; OMC: oral mucosal cells.

Figure 2. Cytogenetic and clinical summary of patients with marker chromosome 10 described in the literature. Representation of the approximate breakpoints/genetic content of the reported sSMC(10) cases and of our case with or without clinical symptoms and with a sufficient cytogenetic characterization. Light gray (green) squares correspond to reported sSMC(10) without clinical symptoms and dark gray (red) squares to reported sSMC(10) associated with clinical findings. Breakpoints’ representation is approximated. L: lymphocytes; F: fibroblasts; NEO: neocentromere; AFC: amniotic fluid cells; CVS: chroinic villi sampling; OMC: oral mucosal cells.

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