Linked Life Data

17784641

Source:http://linkedlifedata.com/resource/pubmed/id/17784641

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
2007-9-5
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1122-9497
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
137-41
pubmed:meshHeading
pubmed:articleTitle
Three cases of genetic defects affecting sperm tail: a FISH study.
pubmed:affiliation
Department of General Surgery, Biology Section, Regional Referral Center for Male Infertility, University of Siena, Siena, Italy. moretti@unisi.it
pubmed:publicationType
Journal Article, Case Reports