Manvelyan, M. and Schreyer, I. and Hoels-Herpertz, I. and Koehler, S. and Niemann, R. and Hehr, U. and Belitz, B. and Bartels, I. and Goetz, J. and Huhle, D. and Kossakiewicz, M. and Tittelbach, H. and Neubauer, S. and Polityko, A. and Mazauric, M-L. and Wegner, R. and Stumm, M. and Kuepferling, P. and Suess, F. and Kunze, H. and Weise, A. and Liehr, T. and 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 (6). pp. 855-864. ISSN 1107-3756, 1791-244X
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | COMMON FRAGILE SITES; ACUTE LYMPHOBLASTIC-LEUKEMIA; SEGMENTAL DUPLICATIONS; HUMAN-GENOME; NECK-CANCER; EVOLUTION; TRANSLOCATIONS; ABERRATIONS; EXPRESSION; MICRODISSECTION; translocation; inversion; insertion; infertility; breakpoint; fragile site; multicolor banding |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 09 Dec 2020 09:37 |
| Last Modified: | 09 Dec 2020 09:37 |
| URI: | https://pred.uni-regensburg.de/id/eprint/32668 |
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