PMID- 17784641
OWN - NLM
STAT- MEDLINE
DCOM- 20070925
LR  - 20070905
IS  - 1122-9497 (Print)
IS  - 1122-9497 (Linking)
VI  - 38
IP  - 2-3
DP  - 2006 Jun-Sep
TI  - Three cases of genetic defects affecting sperm tail: a FISH study.
PG  - 137-41
AB  - Submicroscopic alterations in the cytoskeletal structure of sperm flagellum are 
      associated with severely reduced or completely absent motility in subfertile or 
      infertile men. Sometimes these alterations can be related to well known genotypic 
      defects when the same anomaly affects the whole sperm population. Transmission 
      electron microscopy (TEM) is the only tool able to specifically characterize the 
      morphological features of genetic sperm defects. In this study, the frequencies 
      of aneuploid and diploid spermatozoa were identified in three patients showing 
      specific flagellar anomalies, each of them affecting the whole sperm population: 
      dysplasia of the fibrous sheath, primary ciliary dyskinesia and absence of 
      fibrous sheath. All these defects were highlighted by TEM. Fluorescence in situ 
      hybridization (FISH) analysis was performed on decondensed sperm nuclei for 
      chromosomes 18, X and Y, highlighting higher diploidies and sex chromosome 
      disomies in cases of dysplasia of the fibrous sheath and primary ciliary 
      dyskinesia, in agreement with other reports. We have also described FISH results 
      in spermatozoa with absence of fibrous sheath. In this case, the only one 
      reported due to the rarity of this defect, the aneuploidies and diploidies were 
      within normal range. These data contribute to the growing evidence that genetic 
      sperm defects of sperm flagella are generally correlated with meiotic segregation 
      derangement. For this reason, genetic counseling is advisable, although all the 
      genes involved and the possible mechanisms of these mutations have not yet been 
      fully characterized.
FAU - Moretti, E
AU  - Moretti E
AD  - Department of General Surgery, Biology Section, Regional Referral Center for Male 
      Infertility, University of Siena, Siena, Italy. moretti@unisi.it
FAU - Collodel, G
AU  - Collodel G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Italy
TA  - J Submicrosc Cytol Pathol
JT  - Journal of submicroscopic cytology and pathology
JID - 8804312
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 18
MH  - Chromosomes, Human, X
MH  - Chromosomes, Human, Y
MH  - Cytoskeleton/genetics/*ultrastructure
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/genetics/*pathology
MH  - Male
MH  - Microscopy, Electron, Transmission
MH  - Sperm Tail/*ultrastructure
EDAT- 2007/09/06 09:00
MHDA- 2007/09/26 09:00
CRDT- 2007/09/06 09:00
PHST- 2007/09/06 09:00 [pubmed]
PHST- 2007/09/26 09:00 [medline]
PHST- 2007/09/06 09:00 [entrez]
PST - ppublish
SO  - J Submicrosc Cytol Pathol. 2006 Jun-Sep;38(2-3):137-41.