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Chromosome Abnormalities in Human Sperm

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Advances in Male Mediated Developmental Toxicity

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 518))

Abstract

Chromosome abnormalities are common in humans, with approximately 0.6% present in newborns, 6% in stillbirths and 60% in spontaneous abortions. In comparison to other species, humans appear to have the highest incidence of chromosome anomalies with up to 50% of conceptions being abnormal (Bond and Chandley 1983; Boue et al., 1975). Most chromosome abnormalities are lethal and are lost early in embryologic development, manifesting as infertility or spontaneous abortions. Chromosomally abnormal concepti that survive to term include trisomy 13, 18, 21 and aneuploidy for the sex chromosomes as well as some structural alterations such as translocations and inversions (Jacobs 1992). Children with these chromosome abnormalities often have physical disabilities, reduced intellectual capabilities, behavioural problems, and/or impaired sexual development.

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REFERENCES

  • Adler, 1., El Tarras, A., 1990, Clastogenic effects of cis-diamminedichloroplatinum. II. Induction of chromosomal aberrations in primary spermatocytes and spermatogonia stem cells of mice. Mutat Res. 243:173–178.

    Article  PubMed  CAS  Google Scholar 

  • Bischoff, F., Nguyen, D., Burt, K., Shaffer, L., 1994, Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm. Cytogenet Cell Genet. 66:237–243.

    Article  PubMed  CAS  Google Scholar 

  • Blanco, J., Egozcue, J., Vidal, F., 1996, Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization. Hum Reprod. 11:722–726.

    Article  PubMed  CAS  Google Scholar 

  • Bond, D.J., Chandley, A.C., 1983. Aneuploidy. In: Oxford Monographs on MedicalGenetics, (J.A.F. Roberts, C.O. Carter, A.G. Motulsky, eds.) Oxford University Press, Oxford, p198.

    Google Scholar 

  • Boue, J., Boue, A., Lazar, P., 1975, Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology. 12:11–26.

    Article  PubMed  CAS  Google Scholar 

  • Brandriff, B., Gordon, L., Ashworth, L., Watchmaker, G., Moore, D. 2d, Wyrobek, A., Carrano, A., 1985, Chromosomes of human sperm: variability among normal individuals. Hum Genet. 70:18–24.

    Article  PubMed  CAS  Google Scholar 

  • De Mas, P., Daudin, M.-C, Bourrouillou, G., Calvas, P., Mieusset, R., Bujan, L., 2001, Increased aneuploidy in spermatozon from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin. Hum repod. 16:1204–1208.

    Article  Google Scholar 

  • Escudero, T., Lee, M., Carrel, D., Blanco, J., Munne, S., 2000, Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers. Prenatal Diagnosis. 20:599–602.

    Article  PubMed  CAS  Google Scholar 

  • Genesca, A., Caballin, M.R., Miro, R., Benet, J., Bonfill, X., Egozcue, J., 1990, Human sperm chromosomes. Long-term effect of cancer treatment. Cancer Genet Cytogent. 46:251–260.

    Article  CAS  Google Scholar 

  • Guttenbach,M,. Engel, W., Schmid, M., 1997, Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations: A review. Hum Genet. 100:1–21.

    Article  PubMed  CAS  Google Scholar 

  • Harkonen, K., Viitanen, T., Larsen, S., Bonde, J., Lahdetie, J., 1999, Aneuploidy in sperm and exposure to fungicides and lifestyle factors. ASCLEPIOS. A European concerted action on occupational hazards to male reproductive capability. Environ Mol Mutagen. 34:39–46.

    Article  PubMed  CAS  Google Scholar 

  • Hassold, T., Sherman, S., Pettay, D., Page, D., Jacobs, P., 1991, XY Chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet. 49:253–260.

    PubMed  CAS  Google Scholar 

  • Jacobs, P., 1992, The chromosome complement of human gametes. In Oxford Review of Reproductive Biology, (S.R. Milligan, ed.). Oxford University Press, Oxford, pp 47.

    Google Scholar 

  • Jenderny, J., Jacobi, M., Ruger, A., Rohrborn, G.,1992, Chromosome aberrations in 450 sperm complements from eight controls and lack of increase after chemotherapy in two patients. Hum Genet. 90:151–154.

    PubMed  CAS  Google Scholar 

  • Jenderny, J., Rohrborn, G., 1987, Chromosome analysis of human sperm. 1. First results with a modified method. Hum Genet. 76:385–388.

    Article  PubMed  CAS  Google Scholar 

  • Kamiguchi, Y., Mikamo, K., 1986, An improved, efficient method for analyzing human sperm chromosomes using zona-free hamster ova. Am J Hum Genet. 38:724–740.

    PubMed  CAS  Google Scholar 

  • Laurie, D., Hulten, M., 1985, Further studies on chiasma distribution and interference in the human male. Ann Hum Genet. 49:203–214.

    Article  PubMed  CAS  Google Scholar 

  • MacDonald, M., Hassold, T., Harvey, J., Wang, L.H., Morton, N.E., Jacobs, P., 1994, The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. Hum Mol Genet. 3:1365–1371.

    Article  PubMed  CAS  Google Scholar 

  • Marchetti, F., Bishop, J.B., Lowe, X., Generoso, W.M., Hozier, J., Wyrobek, A.J., 2001, Etopcside induces heritable chromosomal aberrations and aneuploidy during male meiosis in the mouse. Proc Natl Acad Sci USA. 98:3952–3957.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., 1993, Detection of genetic damage in human sperm. Reprod Tox. 7:47–52.

    Article  Google Scholar 

  • Martin, R.H., Balkan, W., Burns, K., Radcmaker, A.W., Lin, C.C., Rudd, NX., 1983, The chromosome constitution of 1000 human spermatozoa. Hum Genet. 63:305–309.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., Ernst, S., Rademaker, A., Barclay, L., Ko, E., Summers, N., 1997a, Analysis of human sperm karyotypes in testicular cancer patients before and after chemotherapy. Cytogenet Cell Genet 78:120–123.

    Google Scholar 

  • Martin, R.H., Ernst, S., Rademaker, A., Barclay, L., Ko, E., Summers, N., 1997b, Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy. Hum Genet. 99:214–218.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., Ernst, S., Rademaker, A., Barclay, L., Ko, E., Summers, N., 1999, Analysis of sperm chromosome complements before, during and after chemotherapy. Cancer Genet Cytogenel. 108:133–136.

    Article  CAS  Google Scholar 

  • Martin, R.H., Hildebrand, K., Yamamoto, J., Rademaker, A., Barnes, M., Douglas, G., Arthur, K., Ringrose, T., Brown, I.S., 1986, An increased frequency of human sperm chromosomal abnormalities after radiotherapy. Mutat Res. 174:219–225.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., Ko, E., Rademaker, A., 1991, Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes. Am J Med Genet. 39:321–331.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., Rademaker, A.W., 1999, Nondisjunction in human sperm: Comparison of frequencies in acrocentric chromosomes. Cytogenet Cell Genet. 86:43–45.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., Rademaker, A., Hildebrand, K., Barnes, M., Arthur, K., Ringrose, T., Brown, I.S., Douglas, G., 1989, A comparison of chromosomal aberrations induced by in-vivo radiotherapy in human sperm and lymphocytes. Mutat Res. 226:21–30.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., Rademaker, A.W., Hildebrand, K., Long-Simpson, L., Peterson, D., Yamamoto, J., 1987, Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet. 77:108–114.

    Article  PubMed  CAS  Google Scholar 

  • Martin, R.H., Spriggs, E.L., 1995, Sperm chromosome complements in a man heterozygous for a reciprocal translocation 46,XY,t(9;13)(q21.1;q21.2) and a review of the literature. Clin Genet. 47:42–46.

    Article  PubMed  CAS  Google Scholar 

  • Mclnnes, B., Rademaker, A., Greene, C., Ko, E., Barclay, L., Martin, R.H., 1998a, Abnormalities for chromosomes 13 and 21 detected in spermatozoa from infertile men. Hum Reprod. 13:2787–2790.

    Article  Google Scholar 

  • Mclnnes, B., Rademaker, A., Martin, R.H., 1998b, Donor age and the frequency of disomy for chromosomes 1, 13, 21 and structural abnormalities in human spermatozoa using multicolour fluorescence in-situ hybridization. Hum Reprod. 13:2489–2494.

    Article  Google Scholar 

  • Moosani, N., Pattinson, H.A., Carter, M.D., Cox. D.M., Rademaker, A.W., Martin, R.H., 1995, Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil Steril. 64:811–817.

    PubMed  CAS  Google Scholar 

  • Padungtod, C., Hassold, T.J., Millie, E., Ryan, L.M., Savitz, D.A., Christiani, D.C., Xu, X., 1999, Sperm aneuploidy among Chinese pesticide factory workers: scoring by the FISH method. Am J Ind Med. 36:230–238.

    Article  PubMed  CAS  Google Scholar 

  • Pang, M., Hoegerman, S., Cuticchia, A., Moon, S., Doncel, G., Acosta, A., and Kearns, W., 1999, Detection of aneuploidy for chromosomes 4,6,7,8,9,10,11,12,13,17,18,21,X and Y by fluorescence in situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplastnic sperm injection. Hum Reprod. 14:1266–1273.

    Article  PubMed  CAS  Google Scholar 

  • Pfeffer, J., Pang, M., Hoegerman, S., Osgood, C., Stacey, M., Mayer, J., Oehninger, S., Kearns, W., 1999, Aneuploidy frequencies in semen fractions from ten oligoasthenoteratozoospermic patients donating sperm for intracytoplasmic sperm injection. Fertil Steril. 12A12–A14,.

    Google Scholar 

  • Qiu, J., Hales, B., Robaire, B., 1992, Adverse effects of cyclophosphamide on progeny outcome can be mediated through post-testicular mechanisms in the rat. Biol Reprod, 46:926–931.

    Article  PubMed  CAS  Google Scholar 

  • Robbins, W, Meistrich, M., Moore, D., Wyrobek, A., Hagemeister, F., Heinz-Ulrich, W., Cassel, M. et al, 1997a, Aneuploidy in sperm of Hodgkin’s disease patients receiving NOVP chemotherapy. Nature Genetics. 16:74–78.

    Article  PubMed  CAS  Google Scholar 

  • Robbins, W., Vine, M., Truong, K., Everson, R., 1997b, Use of fluorescence in situ hybridization (FISH) to assess effects of smoking, caffeine, and alcohol on aneuploidy load in sperm of healthy men. Environ MolMutagen. 20:175–183.

    Article  Google Scholar 

  • Rousseaux, S., Hazzouri, M., Pelletier, R., Monteil, M., Usson, Y., Sele, B., 1998, Disomy rates for chromosomes 14 and 21 studied by fluorescent in-situ hybridization in spermatozoa from three men over 60 years of age. Mol Hum Reprod. 4:695–699.

    Article  PubMed  CAS  Google Scholar 

  • Rudak, E., Jacobs, P., Yanagimachi, R., 1978, Direct analysis of the chromosome constitution of human spermatozoa. Nature. 274:911–913.

    Article  PubMed  CAS  Google Scholar 

  • Savage, A.R., Petersen, M.B., Pettay, D., Taft, L., Allran, K., Freeman, S.B., Karadima, G., Avramopoulos, D., Torfs, C., Mikkelsen, M., Hassold, T.J., Sherman, S.L., 1998, Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet. 7:1221–1227.

    Article  PubMed  CAS  Google Scholar 

  • Scarpato, R., Naccarati, A., Mariani, M., Migliore, L.,1998. Aneuploidy and diploidy rates in sperm of five men after three-colour hybridization: indication of X chromosome-associated autosome 2 aneuploidy. Mutat Res. 412:227–233.

    Article  PubMed  CAS  Google Scholar 

  • Shi, Q., Martin, R.H., 2000a, Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor ages and lifestyle factors. Cytogenet Cell Genet. 90: 219–226.

    Article  PubMed  CAS  Google Scholar 

  • Shi, Q., Martin, R.H., 2000b, Multicolour fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature. Amer J Med Genet. 93:40–66.

    Article  CAS  Google Scholar 

  • Shi, Q., Martin, R.H., 2001, Aneuploidy in human sperm: a review of FISH analysis in men with constitutional chromosome abnormalities, and in infertile men. Reproduction. 121:655–666.

    Article  PubMed  CAS  Google Scholar 

  • Shi, Q., Spriggs, E., Field, L.L., Ko, E., Barclay, L., Martin, R.H., 2001, Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24, XY human sperm. Amer J Med Genet. 99:34–38.

    Article  CAS  Google Scholar 

  • Spriggs, E., Rademaker, A., Martin, R., 1996, Aneuploidy in human sperm: the use of multicolor FISH to test various theories of nondisjunction. Am J Hum Genet. 58:356–362.

    PubMed  CAS  Google Scholar 

  • Van Hummelen, P., Lowe, X.R., Wyrobek, A.J., 1996, Simultaneous detection of structural and numerical chromosome abnormalities in sperm of healthy men by multicolor fluorescence in situ hybridization. Hum Genet. 98:608–615.

    Article  PubMed  Google Scholar 

  • Williams, B., Ballenger, C., Malter, H., Bishop, F., Tucker, M., Swingman, T., Hassold, T., 1993, Nondisjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet. 2:1929–1936.

    Article  PubMed  CAS  Google Scholar 

  • Wyrobek, A.J., Robbins, W.A., Metvalin, Y., Pinkel, D., Weier, H.-U..1994, Detection of sex chromosomal aneuploidies X-X,Y-Y and X-Y in human sperm using two chromosome fluorescence in situ hybridization. Am J Med Genet. 53:1–7.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada

    Renée H. Martin

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  1. Renée H. Martin
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  1. McGill University, Montreal, Quebec, Canada

    Bernard Robaire  & Barbara F. Hales  & 

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Martin, R.H. (2003). Chromosome Abnormalities in Human Sperm. In: Robaire, B., Hales, B.F. (eds) Advances in Male Mediated Developmental Toxicity. Advances in Experimental Medicine and Biology, vol 518. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9190-4_15

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  • DOI: https://doi.org/10.1007/978-1-4419-9190-4_15

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-4829-0

  • Online ISBN: 978-1-4419-9190-4

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