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Molecular Medicine Reports
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Print ISSN: 1791-2997 Online ISSN: 1791-3004
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2014-January Volume 9 Issue 1

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Case Report

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report

  • Authors:
    • Ioannis Papoulidis
    • Eirini Oikonomidou
    • Sandro Orru
    • Elisavet Siomou
    • Maria Kontodiou
    • Makarios Eleftheriades
    • Vasilios Bacoulas
    • Juan C. Cigudosa
    • Javier Suela
    • Loretta Thomaidis
    • Emmanouil Manolakos
  • View Affiliations / Copyright

    Affiliations: Laboratory of Genetics, Eurogenetica S.A., Thessaloniki 55133, Greece, Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari I-09126, Italy, Embryocare, Fetal Medicine Unit, Athens 11522, Greece, Fetal Medicine Centre, Athens 10674, Greece, NIMGenetics, Madrid 28049, Spain, Department of Pediatrics, Aglaia Kyriakou Children's Hospital, University of Athens, Athens 11527, Greece
  • Pages: 163-165
    |
    Published online on: November 11, 2013
       https://doi.org/10.3892/mmr.2013.1788
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Abstract

Thrombocytopenia‑absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life‑threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as mental retardation, autism and microcephaly. This study describes a case of a prenatally diagnosed fetus with compound inheritance of a small (334 kb) deletion, as detected by array‑comparative genomic hybridization, and a 5' untranslated region (UTR) low‑frequency allele (rs139428292) in gene RBM8A as detected by Sanger sequencing. The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334‑kb deletion in the 1q21.1 region and a low‑frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.
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1 

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2 

Hall JG, Levin J, Kuhn JP, et al: Thrombocytopenia with absent radius (TAR). Medicine (Baltimore). 48:411–439. 1969.

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Copy and paste a formatted citation
Spandidos Publications style
Papoulidis I, Oikonomidou E, Orru S, Siomou E, Kontodiou M, Eleftheriades M, Bacoulas V, Cigudosa JC, Suela J, Thomaidis L, Thomaidis L, et al: Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report. Mol Med Rep 9: 163-165, 2014.
APA
Papoulidis, I., Oikonomidou, E., Orru, S., Siomou, E., Kontodiou, M., Eleftheriades, M. ... Manolakos, E. (2014). Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report. Molecular Medicine Reports, 9, 163-165. https://doi.org/10.3892/mmr.2013.1788
MLA
Papoulidis, I., Oikonomidou, E., Orru, S., Siomou, E., Kontodiou, M., Eleftheriades, M., Bacoulas, V., Cigudosa, J. C., Suela, J., Thomaidis, L., Manolakos, E."Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report". Molecular Medicine Reports 9.1 (2014): 163-165.
Chicago
Papoulidis, I., Oikonomidou, E., Orru, S., Siomou, E., Kontodiou, M., Eleftheriades, M., Bacoulas, V., Cigudosa, J. C., Suela, J., Thomaidis, L., Manolakos, E."Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report". Molecular Medicine Reports 9, no. 1 (2014): 163-165. https://doi.org/10.3892/mmr.2013.1788
Copy and paste a formatted citation
x
Spandidos Publications style
Papoulidis I, Oikonomidou E, Orru S, Siomou E, Kontodiou M, Eleftheriades M, Bacoulas V, Cigudosa JC, Suela J, Thomaidis L, Thomaidis L, et al: Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report. Mol Med Rep 9: 163-165, 2014.
APA
Papoulidis, I., Oikonomidou, E., Orru, S., Siomou, E., Kontodiou, M., Eleftheriades, M. ... Manolakos, E. (2014). Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report. Molecular Medicine Reports, 9, 163-165. https://doi.org/10.3892/mmr.2013.1788
MLA
Papoulidis, I., Oikonomidou, E., Orru, S., Siomou, E., Kontodiou, M., Eleftheriades, M., Bacoulas, V., Cigudosa, J. C., Suela, J., Thomaidis, L., Manolakos, E."Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report". Molecular Medicine Reports 9.1 (2014): 163-165.
Chicago
Papoulidis, I., Oikonomidou, E., Orru, S., Siomou, E., Kontodiou, M., Eleftheriades, M., Bacoulas, V., Cigudosa, J. C., Suela, J., Thomaidis, L., Manolakos, E."Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report". Molecular Medicine Reports 9, no. 1 (2014): 163-165. https://doi.org/10.3892/mmr.2013.1788
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