The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Do morphological anomalies reflect chromosomal aneuploidies?*: Case Report
Abstract
In cases of severe teratozoospermia, the current morphological criteria used to assess chromosomal status is insufficient for the selection of spermatozoa for intracytoplasmic sperm injection (ICSI). Case histories are reported of four patients presenting 100% teratozoospermia, and the integrity of their individual chromosomal statuses is determined using a three-colour fluorescence in-situ hybridization (FISH) technique. Patient 1 presented shortened flagella syndrome, patient 2 globozoospermia, patient 3 spermatozoa with irregular acrosomes, and patient 4 macrocephalic spermatozoa with associated multiple flagella. Three-colour FISH analysis using chromosome X, Y and 1-specific probes showed that approximately 95% of the spermatozoa analysed from patients 1, 2 and 3 presented X,1 and Y,1 signals, X,Y ratios and aneuploidy/diploidy rates comparable with those observed in normal controls. In contrast, patient 4 showed a highly elevated Y to X sex ratio and a highly elevated aneuploidy/diploidy rate. Three-colour FISH analysis thus demonstrates an increased incidence of chromosomal abnormalities in association with macrocephalic spermatozoa. Moreover, the analysis shows that in patients affected with either globozoospermia, shortened flagella syndrome or a condition of abnormal acrosomal spermatozoa, no association exists between chromosomal status and phenotype. Since these patients display normal haploid, sex chromosome and aneuploidy status, ICSI can be conceivably offered as a treatment for their infertility.
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“Numerous studies have shown an association between macrozoospermia and an increased risk of sperm aneuploidy, and of polyploidy in particular [38, 39, 40, 41] (Supporting Information S1).”
From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [38]
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Cites
Nagy, Z. P., Liu, J., Joris, H., Verheyen, G., Tournaye, H. J., Camus, M., Derde, M. P., Devroey, P., & Steirteghem, A. C. V. (1995) · Human Reproduction · doi:10.1093/oxfordjournals.humrep.a136104 · Cited by 466
In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors
Hopman, A. H. N., Ramaekers, F. C. S., Raap, A. K., Beck, J. L. M., Devilee, P., van der Ploeg, M., & Vooijs, G. P. (1988) · Histochemistry and Cell Biology · doi:10.1007/bf00500631 · Cited by 451
Globozoospermia in mice lacking the casein kinase II α′ catalytic subunit
Xu, X., Toselli, P. A., Russell, L. D., & Seldin, D. C. (1999) · Nature Genetics · doi:10.1038/12729 · Cited by 400
Egozcue, S. (2000) · Human Reproduction Update · doi:10.1093/humupd/6.1.93 · Cited by 372
Seven years of intracytoplasmic sperm injection and follow-up of 1987 subsequent children
Bonduelle, M., Camus, M., Vos, A. D., Staessen, C., Tournaye, H. J., Assche, E. V., Verheyen, G., Devroey, P., Liebaers, I., & Steirteghem, A. V. (1999) · Human Reproduction · doi:10.1093/humrep/14.suppl_1.243 · Cited by 225
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Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa
Veld, P. I. '., Broekmans, F. J., de France, H. F., Pearson, P. L., Pieters, M. H. E. C., & van Kooij, R. J. (1997) · Human Reproduction · doi:10.1093/humrep/12.4.752 · Cited by 130
FLÖRKE-GERLOFF, S., Töpfer‐Petersen, E., Müller‐Esterl, W., Mansouri, A., SCHATZ, R., Schirren, C., Schill, W. B., & Engel, W. (2009) · Andrologia · doi:10.1111/j.1439-0272.1984.tb00262.x · Cited by 106
Downie, S. (1997) · Molecular Human Reproduction · doi:10.1093/molehr/3.7.585 · Cited by 92
Research works printed but not linked: 1
- World Health Organization (1992) WHO Laboratory Manual for the Examination of Human Semen and Sperm–Cervical Mucus Interaction. Cambridge University Press, Cambridge, UK.
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Teratozoospermia: spotlight on the main genetic actors in the human
Coutton, C., Escoffier, J., Martinez, G., Arnoult, C., & Ray, P. F. (2015) · Human Reproduction Update · doi:10.1093/humupd/dmv020 · Cited by 352
Dam, A. H. D. M., Feenstra, I., Westphal, J. R., Ramos, L., van Golde, R. J. T., & Kremer, J. A. M. (2006) · Human Reproduction Update · doi:10.1093/humupd/dml047 · Cited by 270
DPY19L2 Deletion as a Major Cause of Globozoospermia
Koscinski, I., Elinati, E., Fossard, C., Redin, C. E., Muller, J., de la Calle, J. F. V., Schmitt, F., Khelifa, M. B., Ray, P. F., Kilani, Z., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.01.018 · Cited by 223
Self-citationHarbuz, R., Zouari, R., Pierre, V., Khelifa, M. B., Kharouf, M., Coutton, C., Merdassi, G., Abada, F., Escoffier, J., Nikas, Y., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.02.007 · Cited by 198
Self-citationPolyploidy in large-headed sperm: FISH study of three cases
Devillard, F. (2002) · Human Reproduction · doi:10.1093/humrep/17.5.1292 · Cited by 175
Metadata
- Authors
- Viville, S., Mollard, R., Bach, M.-L., Falquet, C., Gerlinger, P., & Warter, S.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Université de Strasbourg (FR)
- ORCID
- Mollard, Richard
- Venue
- Human Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-12
- Volume
- 15
- Issue
- 12
- Pages
- 2563-2566
- ISSN
- 0268-1161 (ISSN-L)
- 1460-2350
- OpenAlex
- W2149845302
- Cited by
- 129
- References
- 16
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 1 · 2019: 2 · 2018: 3 · 2017: 2 · 2016: 2 · 2015: 7 · 2014: 4 · 2013: 4 · 2012: 8
- FWCI
- 6.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Reproduction (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- teratozoospermia, aneuploidy, sperm morphology, intracytoplasmic sperm injection, fluorescence in situ hybridization, globozoospermia, acrosome abnormalities, sex chromosome aneuploidy, male infertility, sperm selection
- MeSH terms
- Abortion, Spontaneous, Acrosome, Adult, Aneuploidy, Chromosome Aberrations, Chromosomes, Human, Pair 1, Embryo Transfer, Female, Flagella, Humans, Infertility, Male, Male, Middle Aged, Pregnancy, Pregnancy Outcome, Spermatozoa, X Chromosome, Y Chromosome, In Situ Hybridization, Fluorescence, Sperm Injections, Intracytoplasmic
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