Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

  • Authors:
    • M. Manvelyan
    • I. Schreyer
    • I. Höls-Herpertz
    • S. Köhler
    • R. Niemann
    • U. Hehr
    • B. Belitz
    • I. Bartels
    • J. Götz
    • D. Huhle
    • M. Kossakiewicz
    • H. Tittelbach
    • S. Neubauer
    • A. Polityko
    • M.-L. Mazauric
    • R. Wegner
    • M. Stumm
    • P. Küpferling
    • F. Süss
    • H. Kunze
    • A. Weise
    • T. Liehr
    • K. Mrasek
  • View Affiliations

  • Published online on: June 1, 2007     https://doi.org/10.3892/ijmm.19.6.855
  • Pages: 855-864
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Abstract

A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian translocation or pericentric inversion 2 or 9 were not included. In summary, 100 break-events occurred in these patients, and 90 different chromosomal regions were involved. Thus, this study confirmed the presence of abnormal karyotypes in a subgroup of patients seeking infertility treatment. Breaks were demonstrated to appear preferentially in GTG-light bands in these patients. Furthermore, the observed breakpoints were associated with genomic regions prone to instability due to the presence of segmental duplications. 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 2007
Volume 19 Issue 6

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

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Spandidos Publications style
Manvelyan M, Schreyer I, Höls-Herpertz I, Köhler S, Niemann R, Hehr U, Belitz B, Bartels I, Götz J, Huhle D, Huhle D, et al: Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints. Int J Mol Med 19: 855-864, 2007
APA
Manvelyan, M., Schreyer, I., Höls-Herpertz, I., Köhler, S., Niemann, R., Hehr, U. ... Mrasek, K. (2007). Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints. International Journal of Molecular Medicine, 19, 855-864. https://doi.org/10.3892/ijmm.19.6.855
MLA
Manvelyan, M., Schreyer, I., Höls-Herpertz, I., Köhler, S., Niemann, R., Hehr, U., Belitz, B., Bartels, I., Götz, J., Huhle, D., Kossakiewicz, M., Tittelbach, H., Neubauer, S., Polityko, A., Mazauric, M., Wegner, R., Stumm, M., Küpferling, P., Süss, F., Kunze, H., Weise, A., Liehr, T., Mrasek, K."Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints". International Journal of Molecular Medicine 19.6 (2007): 855-864.
Chicago
Manvelyan, M., Schreyer, I., Höls-Herpertz, I., Köhler, S., Niemann, R., Hehr, U., Belitz, B., Bartels, I., Götz, J., Huhle, D., Kossakiewicz, M., Tittelbach, H., Neubauer, S., Polityko, A., Mazauric, M., Wegner, R., Stumm, M., Küpferling, P., Süss, F., Kunze, H., Weise, A., Liehr, T., Mrasek, K."Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints". International Journal of Molecular Medicine 19, no. 6 (2007): 855-864. https://doi.org/10.3892/ijmm.19.6.855