Polyploidy in large-headed sperm: FISH study of three cases.
BACKGROUND
Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality.


METHODS
The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morphological abnormality.


RESULTS
In all patients nearly all sperm contained at least one copy of each sex chromosome, and in more than half of them at least two copies of either chromosome 1 or 18 were identified. In some sperm a tetraploidy was found.


CONCLUSIONS
These observations suggested that both meiotic I and II divisions were affected by incomplete partition of homologous chromosomes during meiosis I and of sister chromatids during meiosis II associated with a failure of nuclear cleavage. Furthermore, they provide evidence for a clear relationship between a specific morphological abnormality of the sperm and their abnormal cytogenetic content. The treatment of infertility using ICSI would probably be unsuccessful and have a high genetic risk in these cases.
Devillard
F
F
Laboratoire de Cytogénétique, Biologie de la Reproduction et CECOS, Centre Hospitalo-Universitaire de Grenoble, 38043 Grenoble cedex 09, France.
Metzler-Guillemain
C
C
Pelletier
R
R
DeRobertis
C
C
Bergues
U
U
Hennebicq
S
S
Guichaoua
M
M
Sèle
B
B
Rousseaux
S
S
D000328:Adult; D002467:Cell Nucleus / Q000502:physiology / Q000648:ultrastructure; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure; D000013:Congenital Abnormalities / Q000235:genetics; D020732:Cytogenetic Analysis; D018628:Gene Dosage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D011003:Ploidies; D012730:Sex Chromosomes / Q000648:ultrastructure; D013077:Sperm Head / Q000648:ultrastructure*; D013094:Spermatozoa / Q000002:abnormalities / Q000502:physiology*