Skip to main content
Download PDF

Is there a relationship between sperm chromosome abnormalities and sperm morphology?

Reproductive Biology and Endocrinology volume 4, Article number: 1 (2006) Cite this article

Abstract

This review explores the relationship between sperm chromosomal constitution and morphology. With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. Fluorescence in situ hybridization (FISH) analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia) is associated with a modest increase in the frequency of sperm chromosome abnormalities. However, FISH studies on some infertile men and mouse strains have suggested that certain types of morphologically abnormal spermatozoa, such as macrocephalic multitailed spermatozoa, are associated with a very significantly increased frequency of aneuploidy. Thus, there may be an association between sperm morphology and aneuploidy in infertile men with specific abnormalities.

Review

Sperm topography is unique among the known cells and 3 major parts can be immediately distinguished: head, midpiece and tail. Normal spermatozoa exhibit an oval-shaped head with a regular outline and an acrosomal cap covering more than one-third of the head surface. The head length is between 3 and 5 μm, and its width ranges between 2 and 3 μm; the width is between one half and two thirds of the length. The midpiece is slender, less than one third of the width of the head, straight and regular in outline; it is aligned with the longitudinal axis of the head and is approximately 7 to 8 μm long. The tail is slender, uncoiled and should present a regular outline: it is at least 45 μm in length [1].

Abnormal sperm morphology is classified as defects in the head, midpiece or tail of the sperm [1]. Head defects include large, small, tapered, pyriform, round, and amorphous heads, heads with a small acrosomal area (<40% of the head area) and double heads, as well as any combination of these. Globozoospermia, where the sperm head appears small and round due to the failure of the acrosome to develop, is an example of a head defect. Midpiece defects include 'bent' neck (where the neck and tail form an angle of greater than 90% to the long axis of the head), asymmetrical insertion of the midpiece into the head, a thick or irregular midpiece, an abnormally thin midpiece (with no mitochondrial sheath), as well as any combination of these. Tail defects include short, multiple, hairpin, broken or bent (>90°) tails, tails of irregular width, coiled tails, as well as any combination of these.

A sperm is basically a package of streamlined genetic information. Intuitively, one might expect that a change in chromosome content is reflected by a change in the size of sperm – thus, people expect to see a relationship between sperm morphology and genetic abnormalities.

Aberrations in the genetic information of spermatozoa include numerical and structural chromosome abnormalities [2]. Numerical abnormalities include aneuploidies and polyploidies, and arise from a missing or extra chromosome(s) due to meiotic non-disjunction. Aneuploidies involve an autosome, a sex chromosome or both; polyploidies have a duplication of all chromosomes. Structural abnormalities include chromosome breaks, gaps, translocations, inversions, insertions, deletions and acentric fragments. The frequency of numerical chromosome abnormalities in sperm of fertile men is 1–2%, and the frequency of structural chromosome abnormalities in sperm varies from 7–14% [3].

It has been suggested that an assay for sperm morphology might prove useful as an initial screen in evaluating men at risk for an increased frequency of sperm chromosomal abnormalities [4]. The potential relationship between sperm morphology and chromosomal constitution has stimulated investigators to study this relationship in fertile men and in men with elevated frequencies of abnormal forms. The advent of techniques such as human sperm karyotyping and fluorescence in situ hybridization (FISH) analysis has allowed these relationships to be explored.

Human sperm karyotype analysis

Using karyotype analysis of the human sperm pronucleus after hamster egg penetration, the association between the frequency of morphologically and chromosomally abnormal sperm was examined in fertile men [5], translocation carriers [6–8] and post-radiotherapy cancer patients [9–11]. This technique provides detailed information about each individual chromosome, permitting analysis of both numerical and structural abnormalities [12–14].

Martin and Rademaker [5] first evaluated the potential relationship between the frequency of chromosomally and morphologically abnormal sperm in thirty healthy fertile men of proven fertility, ranging in age from 22 to 55 years. The relationship between the proportion of sperm with chromosomal abnormalities (numerical, structural and total abnormalities [14, 15]), the proportion of morphologically abnormal sperm (head, midpiece and tail defects [16]), and donor age was correlated using multiple regression analysis. There was no significant association between the proportions of morphologically and chromosomally abnormal sperm, when controlled for age. This was true for the total frequency of chromosomal abnormalities (p = 0.07), and for the frequency of numerical (p = 0.21) and structural (p = 0.32) abnormalities. It could be argued that no association between sperm morphology and chromosomal abnormalities was found because morphologically abnormal sperm did not penetrate the hamster eggs, and thus were not represented in human sperm karyotypes. However, no association was found between the proportions of hamster eggs penetrated and the proportion of morphologically abnormal sperm. These results provide indirect evidence that a morphological assay is not a good indication of chromosomal normalities in human sperm.

In men heterozygous for different translocations [6–8], the frequencies of sperm chromosomal abnormalities were very high, ranging from 33% to 92%, but an increased frequency of morphologically abnormal sperm was not observed. Similarly, the frequencies of abnormal sperm chromosome complements (both numerical and structural abnormalities) were significantly increased in post-radiotherapy cancer patients [9–11], with a range between 6~67%, but no increase in the frequency of morphologically abnormal sperm and no association between sperm morphology and testicular radiation doses were found.

Therefore, even in human populations at risk for a high frequency of sperm chromosome abnormalities (such as translocation carriers and cancer patients), sperm chromosomal abnormalities were not accompanied by an altered frequency of morphologically abnormal sperm.

FISH studies on human sperm

In recent years, studies examining whether aberrant sperm morphology necessarily indicates abnormal chromosomal status in infertile men with elevated frequencies of abnormal forms have been carried out using FISH techniques. FISH analysis involves hybridization of chromosome-specific DNA probes labelled with fluorochromes to complementary DNA sequences on target chromosomes, followed by analysis of the bound probes under a fluorescence microscope. Characterized by its rapid application and easy accessibility, FISH analysis of decondensed sperm heads has proven to be an accurate and reliable method which allows the analysis of thousands of spermatozoa for chromosome aneuploidy in a relatively short period [17, 18].

An elegant study was carried out by Celik-Ozenci et al. [19], in which sperm from fertile men were scored for aneuploidy using FISH, followed by a phase-contrast morphological evaluation of the same sperm. Their results showed that numerical chromosomal aberrations were present in sperm heads of all sizes and shapes, that some disomic and diploid sperm were completely normal-appearing, with a normally-sized, normally-shaped head and tail. Furthermore, sperm with normal chromosome constitutions also came in all shapes and sizes, some with abnormal morphologies. In this study of fertile men, morphology was deemed an unreliable method for the selection of sperm with a normal chromosomal content.

FISH studies on infertile patients

Rives et al. [20] studied 50 infertile patients, including 2 asthenoteratozoospermia patients (<50% motility and <30% morphologically normal forms [1]), and found no correlation between sperm disomy frequency and motility or morphology for all analyzed chromosomes. Vegetti et al. [21] studied 32 infertile patients (7 patients with asthenoteratozoospermia, and 2 with teratozoospermia; all 9 had a normal karyotype) and found no significant association between sperm morphology and the frequency of sperm chromosomal aneuploidy. Viville et al. [22] examined the chromosomal content of spermatozoa from 3 patients affected with either globozoospermia, shortened flagella syndrome, or spermatozoa with an abnormal acrosome. The absence of any significant increase in the aneuploidy rate suggested that there was no significant relationship between the frequency of numerical chromosomal abnormalities and these specific morphological abnormalities. Although not controlled for sperm concentration, these studies indicated that in general, there is no specific correlation between the frequency of aneuploidy and sperm morphology in infertile men [20–22]. This lack of a relationship between sperm morphology and an aneuploid chromosomal constitution agrees with the data obtained by sperm karyotyping analysis using human spermatozoa-hamster egg fusion techniques [5] and after injection of human spermatozoa from semen samples with a high incidence of amorphous, round and elongated sperm heads into mouse oocytes [23]. Although there was no increase in numerical chromosomal aberrations in the latter study, Lee et al. [23] did find an increased frequency of structural chromosome abnormalities such as chromosome/chromatid fragments, dicentric and ring chromosomes.

Infertile patients with teratozoospermia

A modest increase in the frequency of sperm chromosome abnormalities has been found in infertile men with teratozoospermia (<14% normal forms) who had a normal sperm concentration and karyotype. Gole et al. [24] found that sex chromosome disomy in 8 men with teratozoospermia was increased about 4-fold compared to normozoospermic groups. Similarly, sperm chromosomes in men with teratozoospermia and asthenoteratozoospermia had a 2~3 fold increase in numerical abnormalities compared to normal controls [25–28]. Ushijima et al. [29] reported that the incidence of sex chromosome abnormalities increased significantly with an increase in the percentage of morphologically abnormal spermatozoa in eight oligoasthenoteratozoospermia (OAT) patients. These modest increases in sperm aneuploidy suggest that teratozoospermia (like abnormal motility and low concentration) is a marker of abnormal spermatogenesis which is associated with elevated sperm aneuploidy in general.

Globozoospermia

Similarly, a modest increase in the frequency of sex chromosome aneuploidy (2–3 times that in controls) has been found in the sperm of patients with globozoospermia (round-headed sperm) [30–35]. Globozoospermia is a very rare condition observed in <1% of infertile patients, where the major morphological anomaly is the absence of an acrosomal cap in sperm. There is also some suggestion that globozoospermia may be associated with abnormalities in chromatin structure since an increased frequency of sperm with DNA strand breaks (using TUNEL assays) has been found in these patients [33], but this has not been observed in all studies [36]. Mouse models may permit exploration of the mechanisms leading to the abnormalities in this disorder, as a mouse knockout for the casein kinase catalytic subunit gene (which causes globozoospermia and sterility in mice) has been described [37].

Macrocephalic, multinucleated and multiflagellate sperm

In one specific group, a significant association between sperm morphology and sperm chromosome content has been found: in teratozoospermic men with a high percentage of macrocephalic, multinucleated and multiflagellate sperm, very high frequencies of aneuploid and polyploid sperm have been reported. Viville et al. [22] observed a very high frequency of aneuploidy (67%) in a patient with 64% macrocephalic spermatozoa. Benzacken et al. [38] reported an OAT patient who had 100% macrocephalic sperm heads, 38% with an irregular acrosomal cap and 72% with 2–5 flagella. FISH analysis of 1,148 spermatozoa showed 100% chromosomally abnormal sperm: 21.6% were diploid, 62.4% triploid, 13.3% quadriploid and 2.7% hyperploid. In an OAT patient who had 100% sperm with macrocephalic heads, one to three tails and an absence of an acrosomal cap, In't Veld et al. [39] reported that normal haploid sperm were virtually absent (<2%), and abnormalities included 40% diploid and 24% triploid sperm. Another report [40] detailed high frequencies (>50%) of chromosome 18, X and Y disomies in sperm from 3 men with 100% teratozoospermia: double-headed sperm (>20% incidence in all three patients), large-headed multinucleated sperm (>50%) and multiple tail deformities (>50%). Devillard et al. [41] reported more than 50% sperm aneuploidy for chromosomes 1 and 18 in three patients with 100% large-headed multiflagellate sperm. Bernardini et al. [42] reported 20% disomy and 10% diploidy in 6 infertile men with macrocephalic or two-tailed spermatozoa. Thus there is consistent evidence for a relationship between these specific morphological sperm abnormalities and abnormal chromosomal constitutions.

Mouse studies on sperm morphology and chromosome contents

Specific mouse strains with a high incidence of morphologically abnormal sperm have been studied to examine the relationship between sperm morphology and chromosome constitution in two studies [43, 44].

Kishikawa et al. [43] microinjected individual mouse sperm with either normal or abnormal morphology into enucleated mouse oocytes and assessed the relationship between sperm morphology and karyotypes. BALB/c male mice, known to produce an unusually high proportion of morphologically abnormal spermatozoa (75%) [45], were used as sperm donors in this study. Abnormal karyotypes, most with structural breaks and exchanges, were found in 37% of eggs injected with morphologically-abnormal sperm (misshapen sperm heads: collapsed and triangular) – significantly higher than in those injected with normal sperm heads (mean 18%, although this, in itself, is an extraordinarily high frequency). These results suggest a possible association between morphologically abnormal BALB/c spermatozoa and structural chromosome abnormalities.

The PL/J mouse strain also has a high frequency of sperm with abnormal head morphology (30%) [46], including enlarged heads, narrow and elongated heads and no head (mitochondrial drop) [44, 46]. Using FISH methods, Pyle and Handel [44] reported that the frequency of hyperhaploidy (mean 3.4%) in PL/J mouse sperm was significantly higher than that in control B6 mice (mean 0.3%), which might be attributed to strain differences. Numerous meiotic abnormalities contributed to sperm aneuploidy in the PL/J mice. Immunolocalization analysis of the synaptonemal complex (SC) during sperm meiotic prophase showed chromosome asynapsis [47], while analysis of the frequencies of MLH1 foci on SCs in pachytene spermatocytes and direct counts of chiasmata visualized in metaphase I indicated a reduction in crossovers [48, 49]. During the first meiotic division, roughly one-third of PL/J mice spermatocytes exhibited aberrant spindle morphology, with abnormalities including monopolar spindles, split spindle poles, incomplete spindle formation and centrosomal abnormalities. These studies indicate that in PL/J mice, numerous meiotic abnormalities predispose to sperm aneuploidy and possibly abnormal sperm head morphology.

Conclusion

Human sperm karyotype studies do not suggest any relationship between morphology and numerical chromosomal abnormalities in sperm. FISH studies on teratozoospermic men with a normal sperm concentration demonstrate a small, but significant, increased frequency of sperm aneuploidies for some chromosomes. Men with a specific type of teratozoospermia (macrocephalic multiflagellate sperm) have a very high frequency of aneuploid and polyploid sperm.

References

  1. World Health Organization: WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 1993, New York , Cambridge University Press, 3rd

    Google Scholar 

  2. Martin RH, Ko E, Barclay L: Human sperm karyotypes. Human chromosomes: manual of basic techniques. Edited by: Verma RS, Babu A. 1994, New York , McGraw-Hill, 56-65.

    Google Scholar 

  3. Martin RH: Advances in Male-Mediated developmental toxicity. Edited by: Robaire B, Hales BE. 2003, New York , Plenum Press, 518: 181-188. Chromosomal abnormalities in human sperm Advances in Experimental Medicine and Biology

    Chapter  Google Scholar 

  4. Wyrobek AJ, Bruce WR: The induction of sperm-shape abnormalities in mice and humans. Chemical mutagens: principles and methods for their detection. Edited by: Hollaender A, de Serres FJ. 1978, New York , Plenum, Volume 5: 257-285.

    Google Scholar 

  5. Martin RH, Rademaker A: The relationship between sperm chromosomal abnormalities and sperm morphology in humans. Mutat Res. 1988, 207 (3-4): 159-164. 10.1016/0165-7992(88)90081-4.

    Article  CAS  PubMed  Google Scholar 

  6. Balkan W, Martin RH: Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations. Hum Genet. 1983, 63 (4): 345-348. 10.1007/BF00274760.

    Article  CAS  PubMed  Google Scholar 

  7. Balkan W, Martin RH: Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation. Am J Med Genet. 1983, 16 (2): 169-172. 10.1002/ajmg.1320160206.

    Article  CAS  PubMed  Google Scholar 

  8. Martin RH: Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Clin Genet. 1984, 25 (4): 357-361.

    Article  CAS  PubMed  Google Scholar 

  9. Martin RH, Rademaker A, Barnes M, Arthur K, Ringrose T, Douglas G: A prospective serial study of the effects of radiotherapy on semen parameters, and hamster egg penetration rates. Clin Invest Med. 1985, 8: 239-243.

    CAS  PubMed  Google Scholar 

  10. Martin RH, Hildebrand K, Yamamoto J, Rademaker A, Barnes M, Douglas G, Arthur K, Ringrose T, Brown IS: An increased frequency of human sperm chromosomal abnormalities after radiotherapy. Mutat Res. 1986, 174 (3): 219-225. 10.1016/0165-7992(86)90155-7.

    Article  CAS  PubMed  Google Scholar 

  11. Martin RH, Rademaker A, Hildebrand K, Barnes M, Arthur K, Ringrose T, Brown IS, Douglas G: A comparison of chromosomal aberrations induced by in vivo radiotherapy in human sperm and lymphocytes. Mutat Res. 1989, 226 (1): 21-30. 10.1016/0165-7992(89)90088-2.

    Article  CAS  PubMed  Google Scholar 

  12. Rudak E, Jacobs PA, Yanagimachi R: Direct analysis of the chromosome constitution of human spermatozoa. Nature. 1978, 274: 911-913. 10.1038/274911a0.

    Article  CAS  PubMed  Google Scholar 

  13. Martin RH, Ko E, Rademaker A: Human sperm chromosome complements after microinjection of hamster eggs. J Reprod Fertil. 1988, 84 (1): 179-186.

    Article  CAS  PubMed  Google Scholar 

  14. Martin RH, Rademaker AW: The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am J Hum Genet. 1987, 41 (3): 484-492.

    PubMed Central  CAS  PubMed  Google Scholar 

  15. Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J: Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet. 1987, 77 (2): 108-114. 10.1007/BF00272374.

    Article  CAS  PubMed  Google Scholar 

  16. Amelar RD, Dubin L: Semen analysis. Male Fertility. Edited by: Amelar RD, Dubin L, Walsh PC. 1977, Philadelphia , Saunders, Volume 5: 105-140.

    Google Scholar 

  17. Ko E, Rademaker A, Martin RH: Microwave decondensation and codenaturation: a new methodology to maximize FISH data from donors with very low concentrations of sperm. Cytogenet Cell Genet. 2001, 95 (3-4): 143-145. 10.1159/000059336.

    Article  CAS  PubMed  Google Scholar 

  18. Shi Q, Martin RH: Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet. 2000, 90 (3-4): 219-226. 10.1159/000056773.

    Article  CAS  PubMed  Google Scholar 

  19. Celik-Ozenci C, Jakab A, Kovacs T, Catalanotti J, Demir R, Bray-Ward P, Ward D, Huszar G: Sperm selection for ICSI: shape properties do not predict the absence or presence of numerical chromosomal aberrations. Hum Reprod. 2004, 19 (9): 2052-2059. 10.1093/humrep/deh361.

    Article  PubMed  Google Scholar 

  20. Rives N, Saint Clair A, Mazurier S, Sibert L, Simeon N, Joly G, Mace B: Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Hum Genet. 1999, 105 (3): 266-272. 10.1007/s004390051100.

    Article  CAS  PubMed  Google Scholar 

  21. Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M, Liebaers I, Van Steirteghem A: Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in situ hybridization in infertile men. Hum Reprod. 2000, 15: 351-365. 10.1093/humrep/15.2.351.

    Article  CAS  PubMed  Google Scholar 

  22. Viville S, Mollard R, Bach ML, Falquet C, Gerlinger P, Warter S: Do morphological anomalies reflect chromosomal aneuploidies?. Hum Reprod. 2000, 15: 2563-2566. 10.1093/humrep/15.12.2563.

    Article  CAS  PubMed  Google Scholar 

  23. Lee JD, Kamiguchi Y, Yanagimachi R: Analysis of chromosome constitution of human spermatozoa with normal and aberrant head morphologies after injection into mouse oocytes. Hum Reprod. 1996, 11 (9): 1942-1946.

    Article  CAS  PubMed  Google Scholar 

  24. Gole LA, Wong PF, Ng PL, Wang XQ, Ng SC, Bongso A: Does sperm morphology play a significant role in increased sex chromosomal disomy? A comparison between patients with teratozoospermia and OAT by FISH. J Androl. 2001, 22 (5): 759-763.

    CAS  PubMed  Google Scholar 

  25. Templado C, Hoang T, Greene C, Rademaker A, Chernos J, Martin RH: Aneuploid spermatozoa in infertile men: teratozoospermia. Mol Reprod Dev. 2002, 61: 200-204. 10.1002/mrd.1148.

    Article  CAS  PubMed  Google Scholar 

  26. Harkonen K, Suominen J, Lahdetie J: Aneuploidy in spermatozoa of infertile men with teratozoospermia. Int J Androl. 2001, 24 (4): 197-205. 10.1046/j.1365-2605.2001.00280.x.

    Article  CAS  PubMed  Google Scholar 

  27. Calogero AE, De Palma A, Grazioso C, Barone N, Romeo R, Rappazzo G, D'Agata R: Aneuploidy rate in spermatozoa of selected men with abnormal semen parameters. Hum Reprod. 2001, 16 (6): 1172-1179. 10.1093/humrep/16.6.1172.

    Article  CAS  PubMed  Google Scholar 

  28. Hristova R, Ko E, Greene C, Rademaker A, Chernos J, Martin RH: Chromosome abnormalities in sperm from infertile men with aesthenoteratozoospermia. Biol Reprod. 2002, 66: 1781-1783. 10.1095/biolreprod66.6.1781.

    Article  CAS  PubMed  Google Scholar 

  29. Ushijima C, Kumasako Y, Kihaile PE, Hirotsuru K, Utsunomiya T: Analysis of chromosomal abnormalities in human spermatozoa using multi-colour fluorescence in-situ hybridization. Hum Reprod. 2000, 15 (5): 1107-1111. 10.1093/humrep/15.5.1107.

    Article  Google Scholar 

  30. Carrell DT, Emery BR, Liu L: Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil Steril. 1999, 71 (3): 511-516. 10.1016/S0015-0282(98)00498-1.

    Article  CAS  PubMed  Google Scholar 

  31. Carrell DT, Wilcox AL, Udoff LC, Thorp C, Campbell B: Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome. Fertil Steril. 2001, 76: 1258-1260. 10.1016/S0015-0282(01)02904-1.

    Article  CAS  PubMed  Google Scholar 

  32. Zeyneloglu HB, Baltaci V, Duran HE, Erdemli E, Batioglu S: Achievement of pregnancy in globozoospermia with Y chromosome microdeletion after ICSI. Hum Reprod. 2002, 17 (7): 1833-1836. 10.1093/humrep/17.7.1833.

    Article  PubMed  Google Scholar 

  33. Vicari E, Perdichizzi A, De Palma A, Burrello N, D'Agata R, Calogero AE: Globozoospermia is associated with chromatin structure abnormalities. Hum Reprod. 2002, 17 (8): 2128-2133. 10.1093/humrep/17.8.2128.

    Article  PubMed  Google Scholar 

  34. Martin RH, Greene C, Rademaker A: Sperm chromosome aneuploidy analysis in a man with globozoospermia. Fertil Steril. 2003, 79: 1662-1664. 10.1016/S0015-0282(03)00401-1.

    Article  PubMed  Google Scholar 

  35. Morel F, Douet-Guilbert N, Moerman A, Duban B, Marchetti C, Delobel B, Le Bris MJ, Amice V, De Braekeleer M: Chromosome aneuploidy in the spermatozoa of two men with globozoospermia. Mol Hum Reprod. 2004, 10 (11): 835-838. 10.1093/molehr/gah111.

    Article  CAS  PubMed  Google Scholar 

  36. Baccetti B, Collodel G, Piomboni P: Apoptosis in human ejaculated sperm cells (notulae seminologicae 9). J Submicrosc Cytol Pathol. 1996, 28: 587-596.

    CAS  PubMed  Google Scholar 

  37. Kang-Decker N, Mantchev GT, Juneja SC, McNiven MA, van Deursen JM: Lack of acrosome formation in Hrb-deficient mice. Science. 2001, 294: 1531-1533. 10.1126/science.1063665.

    Article  CAS  PubMed  Google Scholar 

  38. Benzacken B, Gavelle FM, Martin-Pont B, Dupuy O, Lievre N, Hugues JN, Wolf JP: Familial sperm polyploidy induced by genetic spermatogenesis failure: case report. Hum Reprod. 2001, 16 (12): 2646-2651. 10.1093/humrep/16.12.2646.

    Article  CAS  PubMed  Google Scholar 

  39. In't Veld PA, Broekmans FJ, de France HF, Pearson PL, Pieters MH, van Kooij RJ: Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa. Hum Reprod. 1997, 12 (4): 752-754. 10.1093/humrep/12.4.752.

    Article  PubMed  Google Scholar 

  40. Lewis-Jones I, Aziz N, Sheshadri S, Douglas H, Howard P: Sperm chromosomal abnormalities are linked to sperm morphological deformities. Fertil Steril. 2003, 79: 212-215. 10.1016/S0015-0282(02)04411-4.

    Article  PubMed  Google Scholar 

  41. Devillard F, Metzler-Guillemain C, Pelletier R, DeRobertis C, Bergues U, Hennebicq S, Guichaoua M, Sele B, Rousseaux S: Polyploidy in large-headed sperm: FISH study of three cases. Hum Reprod. 2002, 17 (5): 1292-1298. 10.1093/humrep/17.5.1292.

    Article  CAS  PubMed  Google Scholar 

  42. Bernardini L, Borini A, Preti S, Conte N, Flamigni C, Capitanio GL, Venturini PL: Study of aneuploidy in normal and abnormal germ cells from semen of fertile and infertile men. Hum Reprod. 1998, 13: 3406-3413. 10.1093/humrep/13.12.3406.

    Article  CAS  PubMed  Google Scholar 

  43. Kishikawa H, Tateno H, Yanagimachi R: Chromosome analysis of BALB/c mouse spermatozoa with normal and abnormal head morphology. Biol Reprod. 1999, 61 (3): 809-812. 10.1095/biolreprod61.3.809.

    Article  CAS  PubMed  Google Scholar 

  44. Pyle A, Handel MA: Meiosis in male PL/J mice: a genetic model for gametic aneuploidy. Mol Reprod Dev. 2003, 64 (4): 471-481. 10.1002/mrd.10231.

    Article  CAS  PubMed  Google Scholar 

  45. Burruel VR, Yanagimachi R, Whitten WK: Normal mice develop from oocytes injected with spermatozoa with grossly misshapen heads. Biol Reprod. 1996, 55 (3): 709-714. 10.1095/biolreprod55.3.709.

    Article  CAS  PubMed  Google Scholar 

  46. Nestor A, Handel MA: The transport of morphologically abnormal sperm in the female reproducitve tract of mice. Gamete Res. 1984, 10: 119-125. 10.1002/mrd.1120100204.

    Article  Google Scholar 

  47. Anderson LK, Reeves A, Webb LM, Ashley T: Distribution of crossing over on mouse synaptonemal complexes using immunofluorescent localization of MLH1 protein. Genetics. 1999, 151 (4): 1569-1579.

    PubMed Central  CAS  PubMed  Google Scholar 

  48. Froenicke L, Anderson LK, Wienberg J, Ashley T: Male mouse recombination maps for each autosome identified by chromosome painting. Am J Hum Genet. 2002, 71 (6): 1353-1368. 10.1086/344714.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  49. Sun F, Oliver-Bonet M, Liehr T, Starke H, Ko E, Rademaker A, Navarro J, Benet J, Martin RH: Human male recombination maps for individual chromosomes. Am J Hum Genet. 2004, 74 (3): 521-531. 10.1086/382138.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

R.H.M. holds the Canada Research Chair in Genetics, and this work was funded by the Canadian Institutes of Health Research (CIHR) (MA7961). F.S. is the recipient of a CIHR Strategic Training Fellowship in Genetics, Child Development and Health.

Author information

Authors and Affiliations

  1. Department of Medical Genetics, Faculty of Medicine, University of Calgary, T2N 4N1, Calgary, Alberta, Canada

    Fei Sun & Renée H Martin

  2. Department of Genetics, Alberta Children's Hospital, T2T 5C7, Calgary, Alberta, Canada

    Fei Sun, Evelyn Ko & Renée H Martin

Authors
  1. Fei Sun
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Evelyn Ko
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Renée H Martin
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Renée H Martin.

Rights and permissions

Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Reprints and permissions

About this article

Cite this article

Sun, F., Ko, E. & Martin, R.H. Is there a relationship between sperm chromosome abnormalities and sperm morphology?. Reprod Biol Endocrinol 4, 1 (2006). https://doi.org/10.1186/1477-7827-4-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1186/1477-7827-4-1

Keywords

Reproductive Biology and Endocrinology

ISSN: 1477-7827

Contact us