Genetic Analysis of Sperm and Implications of Severe Male Infertility—A Review

作者: J. Egozcue , J. Blanco , E. Anton , S. Egozcue , Z. Sarrate

DOI: 10.1016/S0143-4004(03)00186-3

关键词:

摘要: The use of fluorescence in situ hybridization (FISH) on decondensed sperm heads has allowed to analyse the chromosome constitution spermatozoa different populations. In controls, mean incidence disomy (including all chromosomes) is about 6.7 per cent; diploidy increases with age, and some individuals may show a special tendency nondisjunction. Carriers numerical sex anomalies low disomies (2.54-7.69 cent), need screen ICSI candidates for these conditions be reconsidered. inversions produce from 0 54.3 cent abnormal sperm. Robertsonian translocations 3.4 36.0 sperm, carriers reciprocal 47.5 81.0 spermatozoa. However, usually more embryos than expected figures. This partly related interchromosomal effects induced by structural reorganizations. Males oligoasthenozoospermia, motility and/or high FSH concentrations frequent synaptic anomalies, resulting production aneuploid diploid Testicular extremely rates chromosomal abnormalities. risk recurrent abortion increased presence abnormalities

参考文章(62)
F. Morel, C. Roux, J.-L. Bresson, FISH analysis of the chromosomal status of spermatozoa from three men with 45,XY,der(13;14)(q10;q10) karyotype. Molecular Human Reproduction. ,vol. 7, pp. 483- 488 ,(2001) , 10.1093/MOLEHR/7.5.483
Darren K. Griffin, Michael A. Abruzzo, Elise A. Millie, Leon A. Sheean, Eleanor Feingold, Stephanie L. Sherman, Terry J. Hassold, Non-disjunction in human sperm : Evidence for an effect of increasing paternal age Human Molecular Genetics. ,vol. 4, pp. 2227- 2232 ,(1995) , 10.1093/HMG/4.12.2227
Sérgio Soares, Cristina Templado, Joan Blanco, Josep Egozcue, Francesca Vidal, Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction Human Genetics. ,vol. 108, pp. 134- 139 ,(2001) , 10.1007/S004390000449
Joan Blanco, Carmen Rubio, Carlos Simon, Josep Egozcue, F. Vidal, Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH). Human Genetics. ,vol. 99, pp. 413- 416 ,(1997) , 10.1007/S004390050381
C. Templado, F. Vidal, J. Navarro, S. Marina, J. Egozcue, Meiotic studies and synaptonemal complex analysis in two infertile males with a 13/14 balanced translocation Human Genetics. ,vol. 67, pp. 162- 165 ,(1984) , 10.1007/BF00272992
J. Blanco, E. Gabau, D. Gómez, N. Baena, M. Guitart, J. Egozcue, F. Vidal, Chromosome 21 Disomy in the Spermatozoa of the Fathers of Children with Trisomy 21, in a Population with a High Prevalence of Down Syndrome: Increased Incidence in Cases of Paternal Origin American Journal of Human Genetics. ,vol. 63, pp. 1067- 1072 ,(1998) , 10.1086/302058
Sophie Rousseaux, Edith Chevret, Mich�le Monteil, Jean Cozzi, Roberte Pelletier, Didier Delafontaine, Bernard S�le, Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes Human Genetics. ,vol. 96, pp. 655- 660 ,(1995) , 10.1007/BF00210294
E. Anton, J. Blanco, J. Egozcue, F. Vidal, Risk assessment and segregation analysis in a pericentric inversion inv(6)(p23q25) carrier using FISH on decondensed sperm nuclei Cytogenetic and Genome Research. ,vol. 97, pp. 149- 154 ,(2002) , 10.1159/000066603
H. Honda, N. Miharu, O. Samura, H. He, K. Ohama, Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization. Human Genetics. ,vol. 106, pp. 188- 193 ,(2000) , 10.1007/S004390051027