Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect.

作者: Nadejda Machev , Philippe Gosset , Stéphanie Warter , Michèle Treger , Monique Schillinger

DOI: 10.1016/J.FERTNSTERT.2005.03.026

关键词:

摘要: Objective To investigate the existence of an interchromosomal effect in balanced reciprocal translocation carriers and to evaluate their risk having affected child or repeated spontaneous abortions. Design Analysis chromosomal sperm content by fluorescence situ hybridization (FISH) using probes for chromosomes 1, 15, 16, 17, 18, X, Y. Setting University hospital. Patient(s) Six male chromosome rearrangements, one with normal parameters five oligoasthenoteratozoospermia, seven fertile controls. Intervention(s) Fluorescence enumeration on samples. Main Outcome Measure(s) Rate disomy studied chromosomes. Result(s) A total 123,842 spermatozoa were scored (82,181 controls 41,661 patients). For each patient, at least presented a significantly increased rate disomy. One patient showed clear three six studied. Disomy rates statistically inversely correlated progressive motility spermatozoa. Conclusion(s) The observed seems be translocation, dependent. Variable effects observed, according When we looked patients carrying same level was variable different

参考文章(36)
J.M. Vendrell, F. Garcia, A. Veiga, G. Calderon, S. Egozcue, J. Egozcue, P.N. Barri, Meiotic abnormalities and spermatogenic parameters in severe oligoasthenozoospermia Human Reproduction. ,vol. 14, pp. 375- 378 ,(1999) , 10.1093/HUMREP/14.2.375
M. Oliver-Bonet, Aneuploid and unbalanced sperm in two translocation carriers: evaluation of the genetic risk Molecular Human Reproduction. ,vol. 8, pp. 958- 963 ,(2002) , 10.1093/MOLEHR/8.10.958
Stéphane Viville, Richard Mollard, Marie-Lorraine Bach, Cédric Falquet, Pierre Gerlinger, Stéphanie Warter, Do morphological anomalies reflect chromosomal aneuploidies?*: Case Report Human Reproduction. ,vol. 15, pp. 2563- 2566 ,(2000) , 10.1093/HUMREP/15.12.2563
R H Lindenbaum, M Hulten, A McDermott, M Seabright, The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? Journal of Medical Genetics. ,vol. 22, pp. 24- 28 ,(1985) , 10.1136/JMG.22.1.24
J. Navarro, F. Vidal, J. Benet, C. Templado, S. Marina, J. Egozcue, XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation. Human Reproduction. ,vol. 6, pp. 376- 381 ,(1991) , 10.1093/OXFORDJOURNALS.HUMREP.A137343
Christopher E. Aston, Anna M. Estop, Anna M. Estop, Kathy M. Cieply, The meiotic segregation pattern of a reciprocal translocation t(10;12)(q26.1;p13.3) by fluorescence in situ hybridization sperm analysis. European Journal of Human Genetics. ,vol. 5, pp. 78- 82 ,(1997) , 10.1007/BF03405881
Nafisa Moosani, H.A. Pattinson, Michael D. Carter, David M. Cox, A.W. Rademaker, Renee H. Martin, Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization Fertility and Sterility. ,vol. 64, pp. 811- 817 ,(1995) , 10.1016/S0015-0282(16)57859-5
S. Egozcue, J. M. Vendrell, F. Garcia, A. Veiga, B. Aran, P. N. Barri, J. Egozcue, Increased incidence of meiotic anomalies in oligoasthenozoospermic males preselected for intracytoplasmic sperm injection. Journal of Assisted Reproduction and Genetics. ,vol. 17, pp. 307- 309 ,(2000) , 10.1023/A:1009444709504