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Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances

  • Human Genetics ∙ Original Paper
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Abstract

Small supernumerary marker chromosomes (sSMC) are a morphological heterogeneous group of additional abnormal chromosomes that cannot be characterized alone by conventional banding cytogenetics. Molecular cytogenetic techniques are valuable tools for the accurate identification of sSMC and a prerequisite for sound genetic counseling based on refined genotype/phenotype correlation. We describe a new case of a retarded patient with an sSMC derived from chromosome 5. The characterization of the sSMC was done by subcentromere-specific multicolor (subcenM) fluorescence in-situ hybridization (FISH) and by full tilling resolution array analysis, after microdissection and amplification of the marker DNA. Uniparental disomy for normal sister chromosomes of the sSMC(5) was excluded. The karyotype was mos47,XX,+r(5)(::p11.1 → q12.1::)[70%]/46,XX[30%], being the trisomic region between 46.15 ∼ 49.56 Mb and 61.25 ∼ 61.335 Mb, a region known to harbor ∼45 annotated genes. Together with a review of the previously described cases of sSMC(5) and duplications involving the 5q proximal region, we can conclude that trisomy of the 5q11 region is associated with learning difficulties and speech delay.

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Acknowledgments

We thank the patient for her cooperation. Supported in part by ProChance 2008 of the Friedrich Schiller University Jena (21007091) and ProChance 2009.

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Authors and Affiliations

  1. Laboratório de Citogenética e Genómica, Centro de Neurociências e Biologia Celular, Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal

    Joana Barbosa Melo & Isabel Marques Carreira

  2. Center for Human Genetics, Katholieke Universiteit Leuven, University Hospital Leuven, Leuven, Belgium

    Liesbeth Backx & Joris R. Vermeesch

  3. Serviço de Genética Médica, Hospital de Santa Maria, Lisboa, Portugal

    Heloisa G. Santos & Ana C. Sousa

  4. Institute of Human Genetics and Anthropology, Jena University Hospital, Jena, Germany

    Nadezda Kosyakova, Anja Weise, Ferdinand von Eggeling & Thomas Liehr

Authors
  1. Joana Barbosa Melo
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  2. Liesbeth Backx
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  3. Joris R. Vermeesch
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  4. Heloisa G. Santos
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  6. Nadezda Kosyakova
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  9. Thomas Liehr
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  10. Isabel Marques Carreira
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Correspondence to Isabel Marques Carreira.

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Melo, J.B., Backx, L., Vermeesch, J.R. et al. Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances. J Appl Genetics 52, 193–200 (2011). https://doi.org/10.1007/s13353-011-0035-3

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  • DOI: https://doi.org/10.1007/s13353-011-0035-3

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