Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

  • Authors:
    • Marina Manvelyan
    • Mariluce Riegel
    • Monica Santos
    • Carme Fuster
    • Franck Pellestor
    • Marie-Luise Mazaurik
    • Bernt Schulze
    • Anna Polityko
    • Hanne Tittelbach
    • Gisela Reising-Ackermann
    • Britta Belitz
    • Ute Hehr
    • Christina Kelbova
    • Marianne Volleth
    • Elisabeth Gödde
    • Jasen Anderson
    • Peter Küpferling
    • Sigrid Köhler
    • Hans-Christoph Duba
    • Andreas Dufke
    • Dilek Aktas
    • Thomas Martin
    • Isolde Schreyer
    • Elisabeth Ewers
    • Daniela Reich
    • Kristin Mrasek
    • Anja Weise
    • Thomas Liehr
  • View Affiliations

  • Published online on: June 1, 2008     https://doi.org/10.3892/ijmm.21.6.705
  • Pages:705-712
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Abstract

Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.

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June 2008
Volume 21 Issue 6

Print ISSN: 1107-3756
Online ISSN:1791-244X

2016 Impact Factor: 2.341
Ranked #21/128 Medicine Research and Experimental
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APA
Manvelyan, M., Riegel, M., Santos, M., Fuster, C., Pellestor, F., Mazaurik, M. ... Liehr, T. (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21, 705-712. https://doi.org/10.3892/ijmm.21.6.705
MLA
Manvelyan, M., Riegel, M., Santos, M., Fuster, C., Pellestor, F., Mazaurik, M., Schulze, B., Polityko, A., Tittelbach, H., Reising-Ackermann, G., Belitz, B., Hehr, U., Kelbova, C., Volleth, M., Gödde, E., Anderson, J., Küpferling, P., Köhler, S., Duba, H., Dufke, A., Aktas, D., Martin, T., Schreyer, I., Ewers, E., Reich, D., Mrasek, K., Weise, A., Liehr, T."Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature". International Journal of Molecular Medicine 21.6 (2008): 705-712.
Chicago
Manvelyan, M., Riegel, M., Santos, M., Fuster, C., Pellestor, F., Mazaurik, M., Schulze, B., Polityko, A., Tittelbach, H., Reising-Ackermann, G., Belitz, B., Hehr, U., Kelbova, C., Volleth, M., Gödde, E., Anderson, J., Küpferling, P., Köhler, S., Duba, H., Dufke, A., Aktas, D., Martin, T., Schreyer, I., Ewers, E., Reich, D., Mrasek, K., Weise, A., Liehr, T."Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature". International Journal of Molecular Medicine 21, no. 6 (2008): 705-712. https://doi.org/10.3892/ijmm.21.6.705