Cited by 129Sperm and Testicular FunctionPrenatal Screening and DiagnosticsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Do morphological anomalies reflect chromosomal aneuploidies?*: Case Report

Viville, Stéphane, Mollard, Richard, Bach, Marie-Lorraine, Falquet, Cédric, Gerlinger, Pierre, Warter, Stéphanie·2000·Human Reproduction

DOI 10.1093/humrep/15.12.2563

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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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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
DOI: 10.1093/humrep/15.12.2563
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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